Scot Med J 1992; 37: 149-150
0336-9330/92/01792/149 $2,00 in USA © 1992 Scottish Medical Journal
COULD IT BE MYOTONIC DYSTROPHY? MYOTONIC DYSTROPHY PRESENTING WITH ATRIAL FLUTTER I.S. McLay, A, Norris. F. Kerr. Department of Medicine and Therapeutics, Aberdeen Royal Infirmary, Polwarth Buildings, Aberdeen, Department of Medicine Raigmore Hospital, Inverness. Abstract: Myotonic dystrophy is a well recognised and well defined multisystem disorder which is inherited in an autosomal dominant fashion through a locus on chromosome 19.1 The disease itself is characterised by rigidity and degeneration of skeletal muscle. cataract formation, gonadal atrophy.frontal baldness and mental retardation. Like many inherited disorders there is a variable expression and so diverse clinical presentations can occur .2 Key words: Myotonic dystrophy, atrial flutter, arrhythmia, spontaneous abortion, depression, obstetric complications.
Introduction
Case 2
T
The second case, a young woman, who first presented to her GP at the age of 19 years with a history of dizzy spells, profound weakness and lethargy. She was described as mentally slow and depressed. The only physical abnormality detected was absent knee jerks. At this point she was believed to be suffering from a psychosexual disorder and mild depression. She was referred for psychiatric assessment. Three years later she presented with a 10 week spontaneous miscarriage and persistence of profound lethargy, tiredness and inability to work. She was referred again to a psychiatrist. Two years later she presented with a further spontaneous 10 week miscarriage. At this time she and her husband had chromosomal analysis carried out. Both were normal. During the following six years she delivered two healthy babies, one of these pregnancies was troubled by threatened abortion and both required forceps delivery for prolonged second stage of labour. During this time she also had two further spontaneous miscarriages. She remained well for the next 14 years until she presented at the age of 33 with sudden onset of chest pain and palpitation. She was noted to be in slow atrial flutter and referred to the cardiologist who with recent past experience was able to make a prompt diagnosis of myotonic dystrophy. The patient was found to have subtle wasting of temporalis muscles and sternomastoids together with early bilateral lenticular cataracts. Abnormal liver function led to an additional diagnosis of chronic persistent hepatitis.
he disease is believed to be uncommon with a published prevalence between 4.5 and 5.5 per 100,000,3 although recent studies have suggested the prevalence may be as high as 75 per 100,000. 4 Because the disease has a variable presentation and the features may not be typical of myotonic dystrophy at the onset it is probably underdiagnosed or even missed as a diagnosis. 5 Myotonic dystrophy can present in a variety of ways and if not considered diagnosis may be delayed or even missed. We report two patients who both presented to medical services at an early stage but remained undiagnosed for a prolonged period. The severity of their medical problem only became clear with the development of atrial flutter. Case 1 The first case is that of a young woman who first presented at the age of 40 years with a 10 day history of fast palpitation. breathlessness and tiredness. When seen at the cardiac clinic however she was in sinus rhythm and felt well and was therefore discharged from follow up. Four months iater she presented with a further episode of palpitation and was found to have an irregular tachycardia. An ECG revealed atrial flutter with variable block and left bundle branch block. Her past medical history had been uneventful although she did complain of 'rheumatics'. Physical examination was also reported as normal. She was first controlled with digoxin and then anti-coagulated prior to DC cardioversion, which was successfully carried out four weeks after presentation, LBBB remained. Echocardiography and thyroid function tests were normal. The working diagnosis was presumed early cardiomyopathy or ischaemic heart disease. One year later she presented with a further attack of palpitation and was started on digoxin by her GP. Again she was found to be in atrial flutter with a variable block. Following this episode whe was placed on annual review. All remained well for a further four years until she complained again of 'rheumatics in her hands and knees'. On further questioning she described locking of her fingers and knees while making the bed and on climbing stairs. At this review the physician elicited myotonia and made a tentative diagnosis of myotonic dystrophy. Formal examination by a neurologist revealed classical myotonia of hand grip and percussion myotonia of the extensor muscles of her forearm together with definite weakness of hand grip, dorsiflexion of feet and toes and flexion of her neck. Fundoscopy revealed bilateral cataracts. On direct questionion she admitted to long standing difficulties with speech and swallowing together with muscle weakness and stiffness on exercise.
Correspondence to: Dr J S McLay, Department of Medicine and Therapeutics.AberdeenRoyallnfumary,PolwarthBuildings.AberdeenAB92ZD.
Discussion Myotonic dystrophy is apparently rare, but could this rarity be due to a widespread under diagnosis of the disease itse1f?5.6 In the two reported cases there were initial signs and symptoms which might have suggested the possibility of myotonic dystrophy. Both presented at an early stage with atrial flutter which is a well documented feature of advanced disease. 5 A recent study of 65 patients with myotonic dystrophy reported abnormal cardiograms in 63% of recognised sufferers. In the same series atrial flutter or atrial fibrillation occurred only in those patients with severe disease, and 96% of these patients suffered from some form of cardiac arrhythmia? Both patients complained of 'rheumatics', or profound tiredness and lethargy, symptoms which are easy to overlook or put down to depression, mental retardation or dementia but which are common early complaints and findings in myotonic dystrophy. Obstetric complications are also more common in women suffering from myotonic dystrophy. These include spontaneous abortion, threatened abortion, hydramnios, premature onset of labour, prolonged first stage, poor voluntary effort in the second stage and failure of the uterus to contract in the third stage. 8•9
149
McLay, Norris, Kerr
Myotonic dystrophy presenting with atrial flutter
The second case suffered from four spontaneous abortions, one threatened abortion and required forceps delivery for prolonged second stagein both her term pregnancies. Although there is no cure for myotonic dystrophy the earlier recognition of the diagnosis would allow appropriate management particularly with a view to prognosis, anaesthesia and genetic counselling. These patients presented with cardiac rhythm disturbance before other clinical features of the disease were recognised by their medical attendants. Experience from these two patients suggest that atrial flutter may appear at a stage before the clinical diagnosis becomes obvious. A combination of atrial flutter together with symptoms such as stiffness, 'rheumtics' weakness and lethargy or a difficult obstetric history should stimulate a search for other possible
features of myotonic dystrophy. REFERENCES 1 Wieringa B. Brunner H. Hulsebos T, Schonk D, et al. Genetic and physical demarcation of the locus for dystrophia myotonica. Adv Neurol 1988; 48: 47-69. 2 Harper PS. Myotonic dystrophy. Philadelphia: WB Saunders 1979. 3 Harper PS. The genetics of muscular dystrophies. Prog Moo Gen 1985; 6: 53-90. 4 Olofsson BO, Forsberg H, Andersson S, Bjerle P, et al. Electrocardiographic findings in myotonic dystrophy. Artie Moo Res 1988; 47 (Suppl): 420-422. 5 Walton IN. In Walton IN and Gardner D. Disorders of Voluntary Muscles, 4th Edition. Churchill Livingstone, Edinburgh 1981: pp 510-514. 6 Kuhn E, Lehmann-Hom F, Rudel R. Dystrophia myotonia a frequently misdiagnosed disease. Nerveenartz. 1990; 61(6): 323-331. 7 Olofsson BO, Forsberg H, Andersson S, Bjerle P et al. Electrcardiographic findings in myotonic dystrophy. Br Heart J 1988; 59: 47-52. 8 Chung HT, Tam AYC, Wong V, Li DFH et al. Dystrophia myotonica and pregnancy - an instructive case. Postgrad. Moo J 1987; 63: 555-557. 9 Freeman RM. Placenta accreta and myotonic dystrophy. Two case reports. Br J Obstet Gynecol. 1991; 98: 594-595.
Scot Med J 1992; 37: 150-152
0036·9330/92/05792/150 $2.00 in USA © 1992 Scottish Medical Journal
'ECSTASY' AND INTRACEREBRAL HAEMORRHAGE DP. Harries. R. De Silva" Departments of Neurosurgery and *Neurology, Institute of Neurological Sciences, Southern General Hospital, Glasgow. Abstract: Four cases of intracerebral haemorrhage related to the use of amphetamine or 'Ecstasy' (methylene dioxy methylamphetamine) arepresented. Key words: Amphetamine, methylene dioxy methyl amphetamine, 'Ecstasy', intracranial haemorrhage, drug abuse.
Introduction
I
ntracranial haemorrhage related to drug abuse is poorly documented in Great Britain. Four young adult patients presented to our unit over a ten week period with intracerebral haemorrhage. They had all recently taken an amphetamine based drug. Three patients had normal angiograms and made a good functional recovery. One patient who had an arterio-venous malformation died.
seizure. On admission to the Institute of Neurological Sciences she opened her eyes to speech and could localise to painful stimuli. She had a mild right hemiparesis and an expressive dysphasia. Her blood pressure was 140/80. A Cf scan (Fig 2) showed a small left frontal haematoma with blood in the left sylvian fissure. A left carotid angiogram was performed and was normal. She developed further seizures that were controlled with phenytoin. An anonymous phone caller stated that she had taken amphetamine sulphate just prior to the onset of her illness.
Case 3 Case reports Case 1 A previously healthy thirty year old female sustained sudden onset headache, dysphasia and right hemiparesis. She was a smoker and was also taking the oral contraceptive pill. She volunteered that she had taken a mixture of 'ecstasy' and 'speed'(amphetamine) at a party just prior to the onset ofher symptoms. On admission to the Institute of Neurological Sciences she opened her eyes spontaneously and was obeying commands. She was dysphasic with a right hemiparesis, her arm being flaccid. Her blood pressure was 100/60. A Cfscan (Fig 1) revealed a large haematoma deep in the left fronto-parietal region, extending into the basal ganglia. It was decided to treat her conservatively. Cerebral angiography when performed six weeks later was normal.
Case 2 A twenty-two year old woman awoke with the sudden onset of severe headache, urinary incontinence and agitation. She then had a grand mal
A twenty year old man was taken to a public house by his friends at hmch time. He abstained from alcohol but his soft drink was 'spiked' with 'Ecstasy'. He "fell asleep" and was carriedhome. He "slept" all afternoon. The patient had a grand mal seizure later that afternoon and was taken to his local hospital where he was given intravenous diazepam and phenytoin. He was deeply unconscious and therefore ventilated for transfer. On arrival at the Institute of Neurological Sciences he was neither opening his eyes or making any verbal response to painful stimuli. He had a flexor response to pain in both upper limbs. Both pupils were fixed and dilated. His blood pressure was 170/90. A Cf scan (Fig 3) revealed a large frontal haematoma with 1.5 ems of mid line shift. Contra-lateral ventricular dilatation was present. An emergency angiogram was performed and showed a left frontal arteriovenous malformation. The patient had an emergency craniotomy but a combination of severe brain swelling and torrential bleeding resulted in the operation being unsuccessful. The patient was declared brain dead the following day.
Case 4 Correspondence and reprint requests to: Dr De Silva, Department of Neurology, Southern General Hospital,
150
A sixteen year old boy had been drinking cider with his friends. The patient's drink was 'spiked' with 'Ecstasy'. At 9pm he returned home
0336-9330/92/01792/149 $2,00 in USA © 1992 Scottish Medical Journal
COULD IT BE MYOTONIC DYSTROPHY? MYOTONIC DYSTROPHY PRESENTING WITH ATRIAL FLUTTER I.S. McLay, A, Norris. F. Kerr. Department of Medicine and Therapeutics, Aberdeen Royal Infirmary, Polwarth Buildings, Aberdeen, Department of Medicine Raigmore Hospital, Inverness. Abstract: Myotonic dystrophy is a well recognised and well defined multisystem disorder which is inherited in an autosomal dominant fashion through a locus on chromosome 19.1 The disease itself is characterised by rigidity and degeneration of skeletal muscle. cataract formation, gonadal atrophy.frontal baldness and mental retardation. Like many inherited disorders there is a variable expression and so diverse clinical presentations can occur .2 Key words: Myotonic dystrophy, atrial flutter, arrhythmia, spontaneous abortion, depression, obstetric complications.
Introduction
Case 2
T
The second case, a young woman, who first presented to her GP at the age of 19 years with a history of dizzy spells, profound weakness and lethargy. She was described as mentally slow and depressed. The only physical abnormality detected was absent knee jerks. At this point she was believed to be suffering from a psychosexual disorder and mild depression. She was referred for psychiatric assessment. Three years later she presented with a 10 week spontaneous miscarriage and persistence of profound lethargy, tiredness and inability to work. She was referred again to a psychiatrist. Two years later she presented with a further spontaneous 10 week miscarriage. At this time she and her husband had chromosomal analysis carried out. Both were normal. During the following six years she delivered two healthy babies, one of these pregnancies was troubled by threatened abortion and both required forceps delivery for prolonged second stage of labour. During this time she also had two further spontaneous miscarriages. She remained well for the next 14 years until she presented at the age of 33 with sudden onset of chest pain and palpitation. She was noted to be in slow atrial flutter and referred to the cardiologist who with recent past experience was able to make a prompt diagnosis of myotonic dystrophy. The patient was found to have subtle wasting of temporalis muscles and sternomastoids together with early bilateral lenticular cataracts. Abnormal liver function led to an additional diagnosis of chronic persistent hepatitis.
he disease is believed to be uncommon with a published prevalence between 4.5 and 5.5 per 100,000,3 although recent studies have suggested the prevalence may be as high as 75 per 100,000. 4 Because the disease has a variable presentation and the features may not be typical of myotonic dystrophy at the onset it is probably underdiagnosed or even missed as a diagnosis. 5 Myotonic dystrophy can present in a variety of ways and if not considered diagnosis may be delayed or even missed. We report two patients who both presented to medical services at an early stage but remained undiagnosed for a prolonged period. The severity of their medical problem only became clear with the development of atrial flutter. Case 1 The first case is that of a young woman who first presented at the age of 40 years with a 10 day history of fast palpitation. breathlessness and tiredness. When seen at the cardiac clinic however she was in sinus rhythm and felt well and was therefore discharged from follow up. Four months iater she presented with a further episode of palpitation and was found to have an irregular tachycardia. An ECG revealed atrial flutter with variable block and left bundle branch block. Her past medical history had been uneventful although she did complain of 'rheumatics'. Physical examination was also reported as normal. She was first controlled with digoxin and then anti-coagulated prior to DC cardioversion, which was successfully carried out four weeks after presentation, LBBB remained. Echocardiography and thyroid function tests were normal. The working diagnosis was presumed early cardiomyopathy or ischaemic heart disease. One year later she presented with a further attack of palpitation and was started on digoxin by her GP. Again she was found to be in atrial flutter with a variable block. Following this episode whe was placed on annual review. All remained well for a further four years until she complained again of 'rheumatics in her hands and knees'. On further questioning she described locking of her fingers and knees while making the bed and on climbing stairs. At this review the physician elicited myotonia and made a tentative diagnosis of myotonic dystrophy. Formal examination by a neurologist revealed classical myotonia of hand grip and percussion myotonia of the extensor muscles of her forearm together with definite weakness of hand grip, dorsiflexion of feet and toes and flexion of her neck. Fundoscopy revealed bilateral cataracts. On direct questionion she admitted to long standing difficulties with speech and swallowing together with muscle weakness and stiffness on exercise.
Correspondence to: Dr J S McLay, Department of Medicine and Therapeutics.AberdeenRoyallnfumary,PolwarthBuildings.AberdeenAB92ZD.
Discussion Myotonic dystrophy is apparently rare, but could this rarity be due to a widespread under diagnosis of the disease itse1f?5.6 In the two reported cases there were initial signs and symptoms which might have suggested the possibility of myotonic dystrophy. Both presented at an early stage with atrial flutter which is a well documented feature of advanced disease. 5 A recent study of 65 patients with myotonic dystrophy reported abnormal cardiograms in 63% of recognised sufferers. In the same series atrial flutter or atrial fibrillation occurred only in those patients with severe disease, and 96% of these patients suffered from some form of cardiac arrhythmia? Both patients complained of 'rheumatics', or profound tiredness and lethargy, symptoms which are easy to overlook or put down to depression, mental retardation or dementia but which are common early complaints and findings in myotonic dystrophy. Obstetric complications are also more common in women suffering from myotonic dystrophy. These include spontaneous abortion, threatened abortion, hydramnios, premature onset of labour, prolonged first stage, poor voluntary effort in the second stage and failure of the uterus to contract in the third stage. 8•9
149
McLay, Norris, Kerr
Myotonic dystrophy presenting with atrial flutter
The second case suffered from four spontaneous abortions, one threatened abortion and required forceps delivery for prolonged second stagein both her term pregnancies. Although there is no cure for myotonic dystrophy the earlier recognition of the diagnosis would allow appropriate management particularly with a view to prognosis, anaesthesia and genetic counselling. These patients presented with cardiac rhythm disturbance before other clinical features of the disease were recognised by their medical attendants. Experience from these two patients suggest that atrial flutter may appear at a stage before the clinical diagnosis becomes obvious. A combination of atrial flutter together with symptoms such as stiffness, 'rheumtics' weakness and lethargy or a difficult obstetric history should stimulate a search for other possible
features of myotonic dystrophy. REFERENCES 1 Wieringa B. Brunner H. Hulsebos T, Schonk D, et al. Genetic and physical demarcation of the locus for dystrophia myotonica. Adv Neurol 1988; 48: 47-69. 2 Harper PS. Myotonic dystrophy. Philadelphia: WB Saunders 1979. 3 Harper PS. The genetics of muscular dystrophies. Prog Moo Gen 1985; 6: 53-90. 4 Olofsson BO, Forsberg H, Andersson S, Bjerle P, et al. Electrocardiographic findings in myotonic dystrophy. Artie Moo Res 1988; 47 (Suppl): 420-422. 5 Walton IN. In Walton IN and Gardner D. Disorders of Voluntary Muscles, 4th Edition. Churchill Livingstone, Edinburgh 1981: pp 510-514. 6 Kuhn E, Lehmann-Hom F, Rudel R. Dystrophia myotonia a frequently misdiagnosed disease. Nerveenartz. 1990; 61(6): 323-331. 7 Olofsson BO, Forsberg H, Andersson S, Bjerle P et al. Electrcardiographic findings in myotonic dystrophy. Br Heart J 1988; 59: 47-52. 8 Chung HT, Tam AYC, Wong V, Li DFH et al. Dystrophia myotonica and pregnancy - an instructive case. Postgrad. Moo J 1987; 63: 555-557. 9 Freeman RM. Placenta accreta and myotonic dystrophy. Two case reports. Br J Obstet Gynecol. 1991; 98: 594-595.
Scot Med J 1992; 37: 150-152
0036·9330/92/05792/150 $2.00 in USA © 1992 Scottish Medical Journal
'ECSTASY' AND INTRACEREBRAL HAEMORRHAGE DP. Harries. R. De Silva" Departments of Neurosurgery and *Neurology, Institute of Neurological Sciences, Southern General Hospital, Glasgow. Abstract: Four cases of intracerebral haemorrhage related to the use of amphetamine or 'Ecstasy' (methylene dioxy methylamphetamine) arepresented. Key words: Amphetamine, methylene dioxy methyl amphetamine, 'Ecstasy', intracranial haemorrhage, drug abuse.
Introduction
I
ntracranial haemorrhage related to drug abuse is poorly documented in Great Britain. Four young adult patients presented to our unit over a ten week period with intracerebral haemorrhage. They had all recently taken an amphetamine based drug. Three patients had normal angiograms and made a good functional recovery. One patient who had an arterio-venous malformation died.
seizure. On admission to the Institute of Neurological Sciences she opened her eyes to speech and could localise to painful stimuli. She had a mild right hemiparesis and an expressive dysphasia. Her blood pressure was 140/80. A Cf scan (Fig 2) showed a small left frontal haematoma with blood in the left sylvian fissure. A left carotid angiogram was performed and was normal. She developed further seizures that were controlled with phenytoin. An anonymous phone caller stated that she had taken amphetamine sulphate just prior to the onset of her illness.
Case 3 Case reports Case 1 A previously healthy thirty year old female sustained sudden onset headache, dysphasia and right hemiparesis. She was a smoker and was also taking the oral contraceptive pill. She volunteered that she had taken a mixture of 'ecstasy' and 'speed'(amphetamine) at a party just prior to the onset ofher symptoms. On admission to the Institute of Neurological Sciences she opened her eyes spontaneously and was obeying commands. She was dysphasic with a right hemiparesis, her arm being flaccid. Her blood pressure was 100/60. A Cfscan (Fig 1) revealed a large haematoma deep in the left fronto-parietal region, extending into the basal ganglia. It was decided to treat her conservatively. Cerebral angiography when performed six weeks later was normal.
Case 2 A twenty-two year old woman awoke with the sudden onset of severe headache, urinary incontinence and agitation. She then had a grand mal
A twenty year old man was taken to a public house by his friends at hmch time. He abstained from alcohol but his soft drink was 'spiked' with 'Ecstasy'. He "fell asleep" and was carriedhome. He "slept" all afternoon. The patient had a grand mal seizure later that afternoon and was taken to his local hospital where he was given intravenous diazepam and phenytoin. He was deeply unconscious and therefore ventilated for transfer. On arrival at the Institute of Neurological Sciences he was neither opening his eyes or making any verbal response to painful stimuli. He had a flexor response to pain in both upper limbs. Both pupils were fixed and dilated. His blood pressure was 170/90. A Cf scan (Fig 3) revealed a large frontal haematoma with 1.5 ems of mid line shift. Contra-lateral ventricular dilatation was present. An emergency angiogram was performed and showed a left frontal arteriovenous malformation. The patient had an emergency craniotomy but a combination of severe brain swelling and torrential bleeding resulted in the operation being unsuccessful. The patient was declared brain dead the following day.
Case 4 Correspondence and reprint requests to: Dr De Silva, Department of Neurology, Southern General Hospital,
150
A sixteen year old boy had been drinking cider with his friends. The patient's drink was 'spiked' with 'Ecstasy'. At 9pm he returned home
