James Le Fanu

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JRSM – Volume 95, Number 3, 2002

A clutch of new syndromes?

1. Introduction
2. Background
3. Syndromes By Specialty
4. ENT
5. Discussion
6. References

INTRODUCTION

It is reasonable to infer – given the accuracy and sophistication of modern diagnostic techniques – that those patients whose symptoms remain unexplained despite specialist investigation have a somatoform disorder ¹. Indeed such an inference may be obligatory, since protracted rounds of investigative procedures are expensive and can be harmful, while appropriate psychiatric or psychotherapeutic treatment is effective ^{2, 3}. Nonetheless, general practitioners in particular recognize that definitive diagnosis can remain elusive in patients whose symptoms point strongly to organic disease. Their symptomatology can be distinguished from the somatoform disorders on the grounds of specificity and consistency: the same symptom complex is described, often in considerable detail, over a long period with little or no variation.

So far there has been no systematic study of these difficult-to-diagnose syndromes, so their pattern and prevalence remains unknown. I describe here a series of ‘mystery’ syndromes, as reported by readers of a national daily paper over 2 years, as a possible basis for further investigation of this important and neglected issue.

BACKGROUND

Over the past 10 years I have contributed a weekly medical column to the Daily Telegraph, which has a daily readership of about 2,250,000. In October 1998 a reader described how almost every evening he developed ‘an itchy tickling in the throat that induces an episode of convulsive coughing which ends in six huge sneezes’. This was accompanied by ‘aching ears, a feeling in the head as of a nasty cold, but no production of mucus’. Three Ear, Nose and Throat (ENT) specialists whom he had consulted had apparently ‘been baffled’ – but my description of his symptoms in a subsequent column elicited over 40 responses from readers reporting both further unusual sneezing syndromes and a variety of putative causes including NSAID sensitivity. The reader duly discontinued the ibuprofen he was taking for his arthritis with prompt remission of his symptoms.

The scale and diversity of responses to this single unusual query may seem surprising but the readership of the column is probably greater, by an order of magnitude, than the number of patients that any single doctor would see in a lifetime of practice. The column thus seemed to offer a unique opportunity for the clarification of other unusual symptom patterns, since its readers were likely to include either others with similar symptomatology or medically qualified readers who might recognize them.

There is a precedent for this method of reaching a diagnosis in a Babylonian custom from the 5th century BC as described by the Greek historian Herodotus:

They bring their invalids out into the street, where anyone who comes along offers the sufferer advice on his complaint, either from personal experience or observation of a similar complaint in others. Anyone will stop by the sick man's side and suggest remedies which he has himself found successful in whatever the trouble may be, or which he has known to succeed with other people. Nobody is allowed to pass a sick person in silence; but everyone must ask him what is the matter…”. ⁴

It seemed reasonable therefore to suggest that readers whose symptoms had similarly ‘baffled the doctors’ should submit a brief description in the hope that others might be in a position ‘to suggest remedies that had proved successful in whatever the trouble may be’. This request has elicited, over two years, reports of a further 150 mystery syndromes, publication of which has generated numerous suggestions from readers as to their possible aetiology. In some, the symptoms suggested a provisional diagnosis, and these are listed in Table 1. This paper presents a selection of the remaining ‘unsolved mysteries’ in the hope they may be recognized by readers of the Journal. It is possible that some are being described for the first time in a medical publication.

Table 1: Solved mysteries

Primary dacryorrhoea	Benign mucosal pemphigoid
Primary rhinorrhoea	Wartenberg's neuritis
Idiopathic drooling	Chondrodermatitis helicis
Idiopathic dry nose	Erythromelalgia
Burning mouth syndrome	Gustatory sweating
Idiopathic glossodynia	Palindromic rheumatism
Dysgeusia/dysosmia	REM sleep behaviour disorder
Peripheral sensory neuropathy	Painful noctural erection syndrome
Oral dyskinesia	NSAID-induced sneezing
Exploding head syndrome	Primary angioneurotic oedema
Trigeminal neuralgia	Reverse seasonal affective disorder
Spinal vertigo
Chronic persistent vertigo	Elective mutism
Morton's neuroma	Oesophageal spasm
Cluster headache	Waterbrash
Charles Bonnet syndrome	Loin pain/haematuria syndrome
Atypical migraine
Abdominal migraine	Nocturnal polyuria
Migrainous vertigo	Plantar fasciitis

SYNDROMES BY SPECIALTY

These ‘mystery syndromes’ are listed by the specialty whose practitioners are most likely to be able to suggest a provisional diagnosis.

Neurology

Neurological disorders are a particularly fertile source of mystery syndromes. (i) and (ii) are suggestive of a myopathic disorder ^{5, 6} and (iii) of a hypnogogic hallucination – though it was also attributed to the eastern mystical ‘Kundalini experience’ ⁷. There were a couple of variants of facial pain ⁸ and several of presumed dysautonomia of the circulatory and thermoregulatory systems, and it would be surprising if some at least have not already been described ⁹. The pain syndromes are of interest in mimicking well-recognized conditions such as Morton's neuroma and glomus – though without the characteristic features of being exacerbated by pressure.

1. Muscle fatigue / weakness

   ‘For the last 5 years I have had episodes of weakness in my arms following (initially) hard work. Only complete rest seems to help. No numbness, no tingling but plenty of odd sensations difficult to describe: heat sensation, a lesser sub tingling feeling and an overriding sensation of local exhaustion in the arms as though I have been hanging on for dear life to a branch. It is hard to relax the muscles, they keep tensing which I feel hinders the rest which is essential to any improvement. There is a time delay. Too much effort one day will be "paid for" over the next few days. The energy drains out rapidly, returns very slowly and never fully.’

2. Muscle pain and stiffness

   ‘For some 20 years I have had increasing muscular pain chiefly in my neck, head, arms, thighs and buttocks similar to the feeling of acute stiffness after, say, cross-country running but painful without movement. I get spasm in the upper centre of my back and in my abdomen. My wife, who has seen my back, says it is knotted. This has a result of my never being able to sit in a chair or lie in a bed comfortably. Periodically, despite a sleeping pill, I am forced to get up for an hour or so in the night and then again try to get to sleep. The evenings are the worst, though I have had it when I wake up although it eases once I am up and moving about.’

3. Nocturnal sensory spasm

   ‘For the last 10 years I have had the following symptoms, which always happen in bed – when the occurrence is intermittent, approximately six times a year. It starts as a tingling beginning in my feet, slowly intensifying as it works its way up to my head, where it "blasts off" with a whirling dizziness. It is something like an orgasm but considerably more violent. I am then perfectly normal again. It feels as though I jump in the bed but I suspect I do not.’

4. Facial pain

   Eye pain at night ‘For over 30 years I have had acute pain in my right eye which comes on only while I sleep. It is sharp and cramp-like which wakes me up and will not allow me to stay in bed. It has worsened throughout the years. At first it happened relatively infrequently but now it wakes me every night. I have attended many hospital doctors and alternative therapists and tried many drugs, none of which have succeeded in any way at all.’

   Nocturnal jaw pain ‘My 77-year-old husband has always been a healthy, active man until a few months ago when he started having severe pain in his jaw. It almost invariably happens in bed in the early hours of the morning and lasts 20-30 minutes. It leaves him feeling exhausted, with very tender gums. He also often gets a severe pain across his shoulders which comes on at lunchtime – and necessitates him lying down for an hour or so. After exhaustive tests he had an angiogram in order to rule out angina, which it did.’

5. Dysautonomia

   Flushed on exertion – ‘For the last 25 years I have been plagued by regular bouts of feeling quite ill – although I know there is nothing wrong with me so I press on regardless. The main symptom is one of feeling flushed as if I have a temperature and I have noticed over the years it can be brought on by my overdoing the gardening.’

   Tiredness on rising – ‘It happens occasionally that I wake feeling more than usually calm, energetic and full of ideas for plans for things to accomplish. I start enthusiastically but by nine or ten experience the collapse with head foggy, a "drained" feeling in the stomach and legs and my neck tight at the back. This can last for the rest of the day. It has happened on and off over the past 50 years and results in a deplorably inhibited outlook.’

   Total body sweats ‘When I wake up and start to move about, the first sweat arrives and they continue on and off throughout the day and often make sleep difficult. I feel I need to be in a continual breeze to live a comfortable life. Attending church is embarrassing as I literally drip – I have given up the theatre and concerts unless I can sit where there is a draught. Recently I have been getting palpitations during the night, accompanied by the sweats.’

   Body heat – ‘Ever since my husband's heart valve operation he has suffered from a peculiar thing where he feels boiling hot from the chest upwards and very cold from the chest downwards. His temperature is normal but when I am close to him the heat from his upper part is as if I am standing near a fire. He feels as if his head will explode and it makes him feel so ill. He has been in hospital twice for three-day stints, but they can't find any reason for it and say there is nothing they can do.’

   Body chills – ‘Now aged 80 my partner (male) suffered a minor stroke 3 years ago. His "attacks" give no warning and can happen at any time of day and indeed on some occasions have woken him at night. In duration they last only for about 10-30 seconds, some being much more severe than others, but are extremely unpleasant and quite frightening. He complains his whole body (including the face) feels ice cold – he shivers and shakes all over. He describes the feeling of his body gradually "thawing out". He also (for a few seconds) feels very nauseous. Once the attack passes he quickly recovers and feels fine.’

   Cold sweats – ‘I developed a mystery affliction, of perspiring when it is cold. The back of my neck and upper half of my back feels tacky with perspiration – though my clothes aren't wet with it. It makes me feel thoroughly off-colour, off my food and lacking in energy. The doctor could find nothing untoward. The condition continued to the end of April then subsided with the milder weather. But back it came at the end of September and I am still plagued with it.’

6. Pain syndromes

   The first three of these mystery syndromes seem to mimic other well-recognized painful disorders.

   • Chest pain (pseudo-shingles) – ‘For the past 4 months my wife has been experiencing burning sensations to her back and chest of sufficient intensity to prevent her sleeping. The sensation started quite suddenly with burning on the left side of her back which has spread to her chest/stomach. There is no redness or blistering on the skin though she had similar symptoms when she had shingles many years ago. Neither our doctor nor the various specialists she has consulted are able to explain the phenomenon.’
   • Foot pain (pseudo-Morton's neuroma) – ‘I have a sudden quite excruciating pain in the ball of my left foot. It feels like dozens of pins being stuck into me and is so severe I have to sit and seize my foot in my hands until it passes. It is definitely not cramp. It always comes at rest, when I am either sitting or lying, and it comes in attacks of about four or five sessions over 2 or 3 days, then I may not experience it again for weeks or even months.’
   • Fingertip pain (pseudo-glomus) – ‘Last year my wife thought she had a thorn under her left thumbnail. This proved not to be the case but the tip of the thumb felt as if it was in boiling fat. The pad was very sensitive to a "feather" touch. Strangely, it could be grasped firmly without increasing the level of pain. Visits to the family doctors in our practice produced neither diagnosis nor cure.’
   • Total body ‘pins and needles’ – ‘My 70-year-old father-in-law has been afflicted by feelings of pins and needles all over the body from head to toe – especially arms and legs – ever since he had an angioplasty for angina. He describes it as having been in contact with nettles. With this he has a dry mouth, sore gums and a "rushing sound" in his ears. The only relief he has is when he moves around. This feeling happens from the moment he wakes up and is especially worse in the evening. So far he has seen the cardiologist, dermatologist, neurologist and is now trying acupuncture.’

ENT

ENT offers a diverse range of mysteries. There is an obvious similarity between the 'throbbing nostril" (iii) and the 'eye pain at night of the previous section (facial pain). The ‘sore ear’ (iv) simulates chondrodermatitis helicis¹⁰ and is perhaps due to pressure induced ischaemia. The chronic sore throat (vii) is likely to be allergy induced (ozone, cleaning sprays and plants have been incriminated), though acid reflux is also a possibility ¹¹.

1. Intermittent deafness

   ‘My husband experiences the onset of deafness in one ear, usually with an accompanying ringing sound (similar to tinnitus) every time we visit an art gallery or museum. Most recently it happened as we were approaching the gallery to see an exhibition of the works of Goya. Weird or what? It happens in both modern buildings and old ones. It drives him mad. We call it "gallery ear". At home or anywhere else, theatres, railway stations, etc., he is OK.’

2. Throbbing ear

   ‘When I am using the telephone, if I hold the receiver to my right ear the voice of the other party provokes an unpleasant intermittent throbbing, like bubbles bursting in my left ear. When I transfer the receiver to my left ear, the throbbing stops. In the recent past the same throbbing, also in my left ear, would start in bed if I lay on my left side with my ear on the pillow.’

3. Throbbing nostril

   ‘I lose a lot of sleep because when I lie down at night I start to get a very painful throbbing up my right nostril. If I manage to get to sleep I am later awakened by an intense pain. There is some relief if I lie on my left side, but I can't sleep comfortably in that position.’

4. Sore ear

   ‘For about the last 10 years I have woken frequently when lying on either side suffering from very sore ears. The soreness affects the line of rigid muscle which runs alongside the soft outer rim of the ear down to the lobe. Two doctors and a plastic surgeon have told me they have not encountered this before and there is nothing to be done. This is distressing!’

5. Yellow ear

   ‘I have never had any major illnesses or skin complaints but for the last few months I have suffered from intense itching of the neck, limbs and torso together with a yellow discoloration of the top half of both ear lobes. The specialist has been very concerned and painstaking and I have had numerous blood tests and a skin biopsy. I have been before a panel of consultants, none of whom could find any reason for the itching or the yellow ears. Steroid medication controls the itching and allows the rash to clear, but I suffer side effects with them.’

6. Chronic sore throat

   ‘For the last 3 months I have been suffering from a chronic sore throat even though I am a non-smoker, non-drinker, non-singer and do not engage in excessive amounts of talking. The symptoms appeared virtually overnight and have been with me daily ever since. It is a dry sore throat with occasional slight dry cough often accompanied by a burning sensation. There is no inflammation or swelling of the glands, no lumps, no cold or flu symptoms, no congestion or expectoration, no loss of voice. The throat seems all right when I first wake up but within an hour of rising the symptoms start up again, so it becomes irritated after but not during eating. Swallowing and talking also makes it worse. I have been told by a leading specialist that it is nothing serious and that sooner or later the condition will get better.’

7. Music-induced tickle

   ‘There are certain pieces of piano music which, if I play, produce a sneezy tickle on the bridge of my nose! Even if I don't play this particular piece for a year, whenever I put the music in front of me and begin to play, the sneezy tickle comes and perseveres until the end. The little piece of music is Grieg's Springtanz, Opus 17.’

Gastroenterology

Episodic nausea (i) may be due to the recently described syndrome of visceral hyperalgesia ¹², and the abdominal pain on lifting (ii) was attributed to either an abdominal hernia or a prolapsed disc. Rectal pain (v) is probably a variant of proctalgia fugax, but here mimics the pain of haemorrhoids.

Episodic nausea and eructation

‘For the last few years I have had episodes that may last weeks or months where on waking and sitting up in bed I am overwhelmed by feelings of nausea and the desire to bring up wind. I have no appetite and have to force myself to eat, but even then can lose a stone [6 kg] or more in weight. Then quite suddenly for no apparent reason the symptoms disappear again for weeks and months before a further relapse. I have been investigated from head to toe which revealed a hiatus hernia – that was repaired but still the symptoms persisted. I have been told my symptoms are due to depression and swallowing air but a course of antidepressants made them worse.’

1. Abdominal pain on lifting

   ‘My main problem is the inability to move around without abdominal pain. The pain is linked to the muscle down the front right hand side of my body. I cannot even pick up a kettle or a plate without discomfort. I do not drive because I cannot turn the steering wheel and find it difficult to be a passenger in a car because of the vibrations and uneven road surface. I can't garden or do housework. If I do, and I have tried to over the months, I am invariably in trouble for about 36 hours before it comes down. I am always in discomfort but it is bearable if I keep my body still. I do not get any back pain.’

2. Flatulence after swimming

   ‘I endeavour to swim once a week, not always in the same pool. Although I very rarely swallow any of the pool water it is impossible to avoid my face and lips getting wet! After every swim I suffer with flatulence and a generally upset stomach. The symptoms usually appear within one or two hours and can take perhaps 2 days to disappear.’

3. April bowel

   ‘I call my condition "April bowel" and no one has been able to find a cure. When the weather is unsettled, and especially when rain is threatening, my stomach and bowel are also unsettled although not nauseous. I feel slightly better when I eat. My condition is accompanied by lethargy and feeling dozy and tired and everything takes longer because I have to think with great care what I am doing. As soon as it becomes sunny and warm all these symptoms vanish as if they had never been.’

4. Rectal pain

   ‘For the last 9 years I have suffered from perianal pain. It started quite suddenly and was first thought to be an anal fissure. When that was ruled out I ended up seeing virtually every type of consultant from orthopaedic to neurologist, by way of general surgeons and urologists. I had all sorts of investigations from X-rays to MRI scans. None of these has shown any abnormality. The pain is debilitating and varies in intensity from mild discomfort to putting me in bed with an ice pack for a day or two. My mobility is impaired as walking makes it worse and the thought of riding a bicycle or running for a bus is out of the question.’

5. Sympathetic rectal pain

   ‘Whenever I witness a painful incident or even just hear somebody describing a major operation or a slight accident – I sustain this quite severe pain in my rectum. I have never thought of myself as being squeamish and I am mystified by this reaction to events.’

Dermatology

Smelly scalp (i) was attributed to overenthusiastic hair-washing and the walker's ankle rash (iv) to a combination of sweat and washing-powder allergy. Itchy feet (iii) is presumably neuropathic and a variant of burning foot syndrome.

1. Smelly scalp syndrome

   'Since my first baby 17 years ago, I have suffered from what I describe as "smelly scalp" syndrome. I wash my hair every day, sometimes twice, but after only a few hours my scalp smells and feels as though it has not been washed for days. It has got a horrible greasy smell and my scalp feels greasy. I get very embarrassed because I am very aware of it and hate getting too near to people. The problem gets worse when my period is due. The only respite I have had is when I had keyhole surgery for my gallbladder and my scalp stayed sweet smelling all day for about 2 weeks.

2. Smells (miscellaneous)

   • Dusty – ‘About a year ago I began to notice a smell rather similar to the dusty scent of an old paperback book. Since I was often reading when the smell appeared, the book or newspaper seemed a likely source, until I noticed that my urine had the same smell. Although I have not noticed it on my breath, every other bodily emanation has the same odour. On hot days it is quite pronounced. If anyone else has noticed, there has been no comment and everything and everyone smells to me as they always have.’
   • Yeasty – ‘Even shortly after a bath and especially in the morning I am aware of a yeasty smell on my skin. Others say they do not notice it, but to me this is very apparent.’
   • Spicy – ‘For the last 3 months I have been beset with a pungent smell which is clearly coming from me somewhere. It smells like spice and comes in strong waves, a number of times a day, when it is either warm indoors or when I get warm doing gardening outside.’

3. Itchy feet

   ‘My problem for the last 10 years is a deep-seated and painful itch which affects my sleep. The complaint happens usually at night and can affect one or both feet, usually the soles but sometimes the side of the foot. It is painful enough to waken me and keep me awake. My excellent family doctor has prescribed antihistamine cream. I have also used witch hazel gel – both have brought some relief but slowly. They do not seem very effective.’

4. Walker's ankle rash

   ‘Together with several of my walking companions I notice that after a day out in the hills I develop a red and itchy rash around the ankle.’

5. Pink hands and feet

   ‘After a bath the soles of my feet are scarlet and it takes all day to subside. My hands are also red, particularly first thing in the morning. I have two white arms and two pink appendages ending at the wrist, as though I have gloves on.’

6. Love bite blotches

   ‘From time to time I get blotches appearing on my chest, neck and around my eyes. They look to me like blood vessels bursting or even love bites. They do not cause me any pain and though I have had this condition for almost 10 years there has been no ill effect on my general health. I sometimes have to resort to wearing sunglasses when there isn't any sun – and scarves when it is boiling hot!’

Cardiology/respiratory

The pounding heart (i) could be due to dysautonomia, but the associated vibration is most unusual. The involuntary inspiration (ii) may be a vagally mediated reflex, and excess yawning (iii) was attributed to a cervical injury ¹³.

1. Pounding heart / vibrations

   ‘I find that when in bed, my heart, while beating at a regular rate, pounds in my chest and ears, which makes it difficult to get to sleep. On waking the following morning there is a turbulence or quivering in the chest which extends down my arms to my fingers. On touching anything it feels as if it is moving. The symptoms dissipate as soon as I get up and move about.’

2. Involuntary inspiration

   ‘When I am at rest in bed or sitting down quietly, I am obliged to take a short, sharp involuntary breath for no particular reason and at random. I have had this condition for 2 years.’

3. Excess yawning

   ‘I am troubled by long bouts of yawning at any time of day and even in town when shopping or out walking the dog or when driving. Sometimes I feel drowsy at intervals but mostly I feel very tired for minutes on end. The symptoms disappear for varying lengths of time.’

4. Wriggling diapraghm

   ‘My wife has experienced a wriggling sensation in her diaphragm which she can only liken to the movements of a baby in the womb. Investigations have found nothing wrong.’

Rheumatology

Both (i) and (iv) are suggestive of spinal disorders – though the symptomatology is most unusual. The nocturnal hip pain (iii) would be characteristic of trochanteric bursitis were it not for the failure to respond to cortisone injections ¹⁴.

1. Searing chest pains

   ‘For most of my adult life I have suffered from searing pains across my chest wall and under my armpits. I have no warning of when this is going to occur and it is not triggered by any particular movement. The episode of pain can last for an hour or two or can punctuate the whole day. They vary in magnitude from appallingly intense – for which I seek relief with codeine – to the mildly uncomfortable, where the left arm seems to ache from shoulder to elbow. I tend to experience bouts of pain over a week or so and apart from the odd mild sensation I may be essentially pain-free for several months. I have consulted various doctors over the years but they seem unable to make any sense of my pain.’

2. Stabbing knee pain

   ‘While walking up the garden chatting away with my daughter and husband I experienced a sudden sharp stabbing pain on the inside of my right knee. It was in the fleshy mound and seemed not far under the surface, was intense and lasted 25 seconds when it stopped as suddenly as it started. Since then the same excruciating pain (always with the same intensity, lasting the same length of time and always in exactly the same place) has occurred at odd times. It doesn't seem to make any difference whether I am sitting still, standing, walking or fast asleep in bed. Its puzzling aspect is its random occurrence.’

3. Nocturnal hip pain (pseudotrochanteric bursitis)

   ‘Quite suddenly for no reason 10 years ago I developed a pain in my left hip. It is worse on climbing the stairs but really only hurts at night, waking me at 2 am. I am not stiff in the morning. I have seen four specialists – three rheumatologists and one hip surgeon. I have been X-rayed and had an MRI scan, been given cortisone injections and anti-inflammatory pills. None of these have done much good although the pain is less severe than in the past. No one really knows what's going on.’

4. Neck spasm and dramatic change in mood

   ‘My mood can change dramatically within seconds and is all linked to what feels like a muscle spasm at the point where the spine "meets" the head. If the point of pressure moves by a very small distance I feel relieved and can lead a normal life and feel fine! If it doesn't move I can spend the day feeling totally miserable and having no interest in anything and feeling very detached and foggy. It is worse when lying down or when I place my head on a pillow, so sleep is impaired. But it improves rapidly within the first thirty minutes of being awake.’

Urology / gynaecology

The electrical shock of (i) was linked by several Telegraph readers to neck movement – but this was disputed.

The symptoms of ‘sore throat’ vagina (ii) were reportedly relieved by masturbation, suggesting it is caused by ‘pelvic congestion’.

1. ‘Electric shock’ on urination

   ‘I suffer from bouts of cystitis from time to time and although the discomfort of constantly needing to spend a penny is rather trying, the puzzling and rather painful sensation is that of acute pricking in my hands as I pass urine. This pricking is pretty powerful, almost like a mild electric current passing through my hands.’

2. ‘Sore throat’ vagina

   ‘A friend who is in her late 20s has had this problem since she went to university at 18. Her symptoms are a soreness in the vagina "like a sore throat" which is extremely painful, a feeling of being swollen inside. It usually starts during the night, begins suddenly and clears up just as suddenly, and is associated with pain on urination. All the possible causes have been eliminated by hospital tests, and private and complementary medicines have all proved ineffective. The saddest consequence is that this young woman avoids emotional involvement as she is too embarrassed to explain her problem. She sees her youth and chances of romance slipping away.’

3. Sleep clinic

   Sleep, being an altered state of consciousness, would be expected to generate several mystery sensory symptoms. (i) and (iii) are strongly suggestive of dysautonomia type syndrome.

4. ‘Horrible’ sensation on waking

   ‘6 years ago I started getting the most horrible sensation going through my body every time I woke from sleep, be it at 4 am or after a 5 minute kip after lunch. It is difficult to describe but is rather like poisoned soda water bubbles in the bloodstream and sometimes the waking is traumatic, especially when in a chair or on the beach. In the daytime the effects work off more quickly if I mow the lawn.’

5. Nocturnal electric shock

   ‘About 2 hours after falling asleep I awake, usually after a mildly disturbing dream, to an awful sensation in my legs. It can best be described as an electric shock. It feels as though every nerve is standing on edge. The only relief is to rub downwards. It sometimes makes me cry and, as all fears seem to be magnified in the small hours, I can't help wondering about "spontaneous combustion". My doctor does not seem to take it seriously. Her attitude can be summed up as "amused incredulity" – but I assure you I do not find it funny.’

6. Pounding head/profuse sweating

   ‘For the past 10 years I have had a particular health problem whose symptoms have not changed. I go to bed at night feeling upbeat. I go to sleep immediately. After about 4 hours I wake with some slight reflux. I have a distinct pounding in my head and a strong but not racing pulse. I have been sweating profusely and my hair around the nape of my neck is wet. I need to change my pyjama jacket. The next day I have a headache and distinct lethargy. I have had massive doses of the acid suppressant drug Losec [omeprazole], but still get the symptoms.’

7. Flat beer syndrome

   ‘When I drink a pint of beer it goes flat in the glass immediately. When the glass is refilled the beer immediately loses its head – even before I have touched it. It seems I must have left some chemical in the glass which has this effect. I would not be over-concerned, but I have also been feeling very tired and suffering from dizzy spells, chest pains and muscle spasm. My urine is frequently ioly. It has been tested and nothing has been found. I also note that if I drink red wine an oily film forms on the top.’

DISCUSSION

The major developments in imaging and other diagnostic procedures over the past three decades have generated the expectation on the part of both doctors and their patients that it should be possible to establish ‘what is wrong’. Logically then, those whose symptoms remain medically unexplained – where neither objective findings from examination nor investigation point to an organic cause – are presumed to have a somatoform disorder.

This paper challenges this assumption in three grounds. First, the somatoform disorders are not ‘diagnoses of exclusion’ but rather exhibit the characteristic pattern of being variable over time and involving more than one body system. By contrast, the two main characteristics of these ‘mystery syndromes’ are their consistency and specificity. Second, the provisional diagnoses listed in Table 1 rely on the history alone in the absence of objective confirmatory findings from examination and investigation. There is no reason to suppose that the same should not apply to the unsolved mystery syndromes. Third, doctors are not yet infallible, so it can be presumed that some of the symptoms that are ‘medically unexplained’ may well reflect organic disease ¹⁵.

These mystery syndromes are by definition not common, but cumulatively they pose a substantial challenge to medical practice since they generate repeated consultations and investigation. They can also cause considerable distress, both from the symptoms themselves and from the failure to establish a diagnosis – especially when doctors imply that ‘medically unexplained’ is equivalent to ‘psychological’.

I hope that readers of the JRSM will be in a position to suggest a provisional diagnosis for some of the mystery syndromes described above, or by recognizing them in other sufferers contribute to the identification of previously unreported medical disorders ¹⁶.

Footnotes

References