Clin&alRadiology (1992) 46, 284-285
Case Report: Selective Occipital Lobe Hydrocephalus and Agenesis of the Left Lobe of the Liver in Congenital Myotonic Dystrophy B. K L I N , Y. E F R A T I a n d I. V I N O G R A D
Department of Paediatric Surgery, Assaf Harofeh Medical Center, Affiliated to Sackler Faculty of Medicine, Tel Aviv University, Israel Myotonie dystrophy (Steinert's disease) is an uncommon familial autosomai dominant disease, characterized by progressive muscular atrophy and myotonia. Mental retardation, frontal baldness, cortical ienticular opacities and testicular atrophy are other prominent features of a disease that involves predominantly striated muscle. There is little information regarding this disease in the radiological literature. The present report introduces two additional findings involving the skull and the liver. Klin, B., Efrati, Y. & V i n o g r a d , I. (1992). Clinical Radiology 46, 284-285. Case Report: Selective Occipital Lobe H y d r o c e p h a l u s a n d Agenesis of the Left Lobe of the Liver in C o n g e n i t a l M y o t o n i c Dystrophy
CASE REPORT A 15-year-old girl known to suffer from congenital myotonic dystrophy was admitted to hospital as a suspected case of intestinal obstruction. Severe abdominal pain was followed by recurrent bilestained vomiting. Initial physical examination revealed macrocephaly, hypertelorism, abdominal distension and hyperperistalsis,in addition to characteristic features of congenital myotonic dystrophy. These included a typical facial appearance of frontal baldness, hollow cheeks and dropping eyelids. Her laboratory investigations proved to be normal. A plain abdominal radiograph showed multiple loops of dilated bowel (Fig. 1). However, because the patient's general condition was satisfactory and taking into account the well-known gastrointestinal manifestations of congenital myotinic dystrophy includingdysphagia, vomiting, cramp-like abdominal pain, alternating constipation and diarrhoea, as wellas paralytic ileus [1] a decisionwas made to treat her conservatively. During the first 5 days, nasogastric drainage yieldedabout 500 ml/day of bile-stained fluid, and her clinical condition improved steadily. This contrasted with the persistenceof dilated loops of small bowel in followup radiographs. With improvement in her clinical symptoms of intestinal obstruction, abdominal ultrasound and computed tomography (CT) were performed. They showed multiple gallstones and absence of the left hepatic lobe (Fig. 2). Because of the patient's unusually large head, a brain CT scan was also carried out. It revealed an impressive degree of selectiveoccipital lobe hydrocephalus (Fig. 3). No mechanical cause of the hydrocephalus was found. During the followingdays the patient's condition improved further, and she was discharged from hospital after 2 weeks in good general state.
n e o n a t a l period, does n o t appear to have been previously reported in association with Steinert's disease. The disease also involves the gastrointestinal tract. The p h a r y n g e a l muscles (which are striated) are almost always affected. This p r o d u c e s a n a b n o r m a l i t y o f swallowing, which is associated with food p o o l i n g within the valleculae a n d p y r i f o r m fossae. Segmental hypertonicity due to a
DISCUSSION A p p r o x i m a t e l y 50% o f patients with m y o t o n i c dyst r o p h y exhibit skull changes, consisting of generalized thickness of the vault, small sella turcica, a n d enlarged frontal sinuses [2]. Less frequent skeletal findings are s u b l u x a t i o n s of the t e m p o r o m a n d i b u l a r joints, thin ribs [3], short fourth metacarpals a n d arachnodactily. Selective occipital lobe hydrocephalus, characteristic of the Correspondence to: Dr I. Vinograd, Head, Department of Paediatric Surgery, Assaf Harofeh Medical Center, Zerifin 70300, Israel.
Fig. 1 - Plain radiograph of the abdomen showing loops of enlarged bowel.
NEW RADIOLOGICALFINDINGS IN STEINERT'SDISEASE
Fig. 2 Abdominal CT scan, showing absence of the left lobe of the liver, enlarged bowel loops, and numerous gallstones in the gallbladder.
285
pathic intestinal pseudo-obstruction has also been recognized [8]. In another case o f congenital m y o t o n i c dystrophy, segmental narrowing rather than dilatation o f the sigmoid colon has been described, but the cause o f this finding is u n k n o w n [2]. Recurrent episodes o f cramp-like abdominal pain, diarrhoea, constipation, or a combination o f diarrhoea and constipation, associated with the presence o f megacolon, are well recognized. The high incidence o f gallbladder disease and cholelithiasis - also present in our p a t i e n t - is t h o u g h t to be the result o f impaired contraction and emptying o f the gallbladder. The gastrointestinal and extra-gastrointestinal radiological features o f congenital m y o t o n i c d y s t r o p h y were summarized by Simpson and Khilnani [9]. Agenesis o f the left lobe o f the liver is a rare findingMerril [10] reported only one case in 19 000 necropsies. A t r o p h y o f the left hepatic lobe has been described in association with chronic liver disease, but the m o s t c o m m o n association with congenital absence o f the left lobe o f the liver is volvulus o f the s t o m a c h [11]. Other associated anomalies include hiatal hernia and chronic cholelithiasis. M a r k e d mobility o f the s t o m a c h identified in the course o f a barium meal examination is also seen with an aplastic hepatic lobe [12]. The association o f agenesis o f the left lobe o f the liver and congenital m y o t o n i c d y s t r o p h y has not been previously reported. The radiologist should be aware o f the pattern o f lesions that m a y be encountered in patients with congenital m y o t o n i c dystrophy. N o t only will he or she contribute to better patient m a n a g e m e n t , but he or she m a y be able in clinically incomplete cases to suggest the correct diagnosis. The differentiation between paralytic ileus and mechanical obstruction is imperative, particularly since anaesthesia in m y o t o n i c dystrophy patients is difficult and carries a high risk [13].
REFERENCES
Fig. 3 - Brain CT scan, showing selective occipital lobe hydrocephalus. persistent m y o t o n i c contraction is also occasionally encountered, and has been reported in cricopharyngeal muscle, the lower end o f the oesophagus and the anal sphincter. I f the lower end o f the oesophagus is involved, the lesion m a y be mistaken for scleroderma, achalasia and at times carcinoma [4]. Dilatation o f the oesophagus, small bowel or colon has been described, involvement o f the entire gastrointestinal tract (as in our patient) is unusual. Segmental dilatation o f the small bowel is a c o m m o n finding and its site and severity varies between individuals. Diffuse dilatation o f the colon, which is associated with loss o f haustral markings, is being identified with increasing frequency [5-7]. Such findings m a y easily be confused with chronic ulcerative colitis, scleroderma, or a cathartic colon. In some cases the involved part o f the colon also elongates, a n d this predisposes to an a b n o r m a l motility and volvulus. Idio-
1 Nowak TV, Ionasescu V, Anuras S. Gastrointestinal manifestations of the muscular dystrophies. Gastroenterology 1982;82:800 810. 2 Krain S, Rabinowitz JD. Radiologic features ofmyotonic dystrophy with presentation of new finding. Clinical Radiology 1971;22:462 465. 3 Fried K, Pajewski G, Mundel G, Caspi E, Spira R. Thin ribs in neonatal myotonic dystrophy. Clinical Genetics 1975;7:417 420. 4 Hughes DT, Swan JC, Gleeson JA. Abnormalities in swallowing associated with myotonia dystrophica. Brain 1965;88:1037 1042. 5 Bertrand L. Le Megacolon dans la Maladie de Steinert. Revue Neurologique 1949;81:480 486. 6 Kohn NN, Faires JS, Rodman T. Unusual manifestations due to involvement of involuntary muscles in dystrophica myotonia. New England Journal o f Medicine 1964;271:1179 1183. 7 Schuman BM, Rinaldo JA Jr, Darnley JD. Visceral changes in myotonic dystrophy. Annals oflnternal Medicine 1965;63:793 799. 8 Moss AA, Goldberg HI, Brotman M. Idiopathic intestinal pseudoobstruction. American Journal of Roentgenology 1972;115:312 317. 9 Simpson AJ, Khilnani MT. Gastrointestinal manifestations of the muscular dystrophies- a review of roentgen findings. American Journal of Roentgenology 1975;125:948-955. 10 MerrilGG. Complete absence ofthe left lobe ofthe liver. Archivesqf Pathology 1946;42:232 233. 11 Ahmed AF, Bedeiako AK, Rai D. Agenesis of the left hepatic lobe with gastric volvulus. New York State Journal of Medicine 1988;88:327-328. 12 Meyers HI, Jacobson G. Displacements of stomach and duodenum by anomalous lobes of the liver. American Journal o f Roentgenology 1958;79:789-792. 13 Aldridge LM. Anaesthetic problems in myotonic dystrophy; a case report and review of the Aberdeen experience comprising 48 general anaesthetics in a further 16 patients. British Journal o f Anaesthesia 1985;57:1119 1130.
Case Report: Selective Occipital Lobe Hydrocephalus and Agenesis of the Left Lobe of the Liver in Congenital Myotonic Dystrophy B. K L I N , Y. E F R A T I a n d I. V I N O G R A D
Department of Paediatric Surgery, Assaf Harofeh Medical Center, Affiliated to Sackler Faculty of Medicine, Tel Aviv University, Israel Myotonie dystrophy (Steinert's disease) is an uncommon familial autosomai dominant disease, characterized by progressive muscular atrophy and myotonia. Mental retardation, frontal baldness, cortical ienticular opacities and testicular atrophy are other prominent features of a disease that involves predominantly striated muscle. There is little information regarding this disease in the radiological literature. The present report introduces two additional findings involving the skull and the liver. Klin, B., Efrati, Y. & V i n o g r a d , I. (1992). Clinical Radiology 46, 284-285. Case Report: Selective Occipital Lobe H y d r o c e p h a l u s a n d Agenesis of the Left Lobe of the Liver in C o n g e n i t a l M y o t o n i c Dystrophy
CASE REPORT A 15-year-old girl known to suffer from congenital myotonic dystrophy was admitted to hospital as a suspected case of intestinal obstruction. Severe abdominal pain was followed by recurrent bilestained vomiting. Initial physical examination revealed macrocephaly, hypertelorism, abdominal distension and hyperperistalsis,in addition to characteristic features of congenital myotonic dystrophy. These included a typical facial appearance of frontal baldness, hollow cheeks and dropping eyelids. Her laboratory investigations proved to be normal. A plain abdominal radiograph showed multiple loops of dilated bowel (Fig. 1). However, because the patient's general condition was satisfactory and taking into account the well-known gastrointestinal manifestations of congenital myotinic dystrophy includingdysphagia, vomiting, cramp-like abdominal pain, alternating constipation and diarrhoea, as wellas paralytic ileus [1] a decisionwas made to treat her conservatively. During the first 5 days, nasogastric drainage yieldedabout 500 ml/day of bile-stained fluid, and her clinical condition improved steadily. This contrasted with the persistenceof dilated loops of small bowel in followup radiographs. With improvement in her clinical symptoms of intestinal obstruction, abdominal ultrasound and computed tomography (CT) were performed. They showed multiple gallstones and absence of the left hepatic lobe (Fig. 2). Because of the patient's unusually large head, a brain CT scan was also carried out. It revealed an impressive degree of selectiveoccipital lobe hydrocephalus (Fig. 3). No mechanical cause of the hydrocephalus was found. During the followingdays the patient's condition improved further, and she was discharged from hospital after 2 weeks in good general state.
n e o n a t a l period, does n o t appear to have been previously reported in association with Steinert's disease. The disease also involves the gastrointestinal tract. The p h a r y n g e a l muscles (which are striated) are almost always affected. This p r o d u c e s a n a b n o r m a l i t y o f swallowing, which is associated with food p o o l i n g within the valleculae a n d p y r i f o r m fossae. Segmental hypertonicity due to a
DISCUSSION A p p r o x i m a t e l y 50% o f patients with m y o t o n i c dyst r o p h y exhibit skull changes, consisting of generalized thickness of the vault, small sella turcica, a n d enlarged frontal sinuses [2]. Less frequent skeletal findings are s u b l u x a t i o n s of the t e m p o r o m a n d i b u l a r joints, thin ribs [3], short fourth metacarpals a n d arachnodactily. Selective occipital lobe hydrocephalus, characteristic of the Correspondence to: Dr I. Vinograd, Head, Department of Paediatric Surgery, Assaf Harofeh Medical Center, Zerifin 70300, Israel.
Fig. 1 - Plain radiograph of the abdomen showing loops of enlarged bowel.
NEW RADIOLOGICALFINDINGS IN STEINERT'SDISEASE
Fig. 2 Abdominal CT scan, showing absence of the left lobe of the liver, enlarged bowel loops, and numerous gallstones in the gallbladder.
285
pathic intestinal pseudo-obstruction has also been recognized [8]. In another case o f congenital m y o t o n i c dystrophy, segmental narrowing rather than dilatation o f the sigmoid colon has been described, but the cause o f this finding is u n k n o w n [2]. Recurrent episodes o f cramp-like abdominal pain, diarrhoea, constipation, or a combination o f diarrhoea and constipation, associated with the presence o f megacolon, are well recognized. The high incidence o f gallbladder disease and cholelithiasis - also present in our p a t i e n t - is t h o u g h t to be the result o f impaired contraction and emptying o f the gallbladder. The gastrointestinal and extra-gastrointestinal radiological features o f congenital m y o t o n i c d y s t r o p h y were summarized by Simpson and Khilnani [9]. Agenesis o f the left lobe o f the liver is a rare findingMerril [10] reported only one case in 19 000 necropsies. A t r o p h y o f the left hepatic lobe has been described in association with chronic liver disease, but the m o s t c o m m o n association with congenital absence o f the left lobe o f the liver is volvulus o f the s t o m a c h [11]. Other associated anomalies include hiatal hernia and chronic cholelithiasis. M a r k e d mobility o f the s t o m a c h identified in the course o f a barium meal examination is also seen with an aplastic hepatic lobe [12]. The association o f agenesis o f the left lobe o f the liver and congenital m y o t o n i c d y s t r o p h y has not been previously reported. The radiologist should be aware o f the pattern o f lesions that m a y be encountered in patients with congenital m y o t o n i c dystrophy. N o t only will he or she contribute to better patient m a n a g e m e n t , but he or she m a y be able in clinically incomplete cases to suggest the correct diagnosis. The differentiation between paralytic ileus and mechanical obstruction is imperative, particularly since anaesthesia in m y o t o n i c dystrophy patients is difficult and carries a high risk [13].
REFERENCES
Fig. 3 - Brain CT scan, showing selective occipital lobe hydrocephalus. persistent m y o t o n i c contraction is also occasionally encountered, and has been reported in cricopharyngeal muscle, the lower end o f the oesophagus and the anal sphincter. I f the lower end o f the oesophagus is involved, the lesion m a y be mistaken for scleroderma, achalasia and at times carcinoma [4]. Dilatation o f the oesophagus, small bowel or colon has been described, involvement o f the entire gastrointestinal tract (as in our patient) is unusual. Segmental dilatation o f the small bowel is a c o m m o n finding and its site and severity varies between individuals. Diffuse dilatation o f the colon, which is associated with loss o f haustral markings, is being identified with increasing frequency [5-7]. Such findings m a y easily be confused with chronic ulcerative colitis, scleroderma, or a cathartic colon. In some cases the involved part o f the colon also elongates, a n d this predisposes to an a b n o r m a l motility and volvulus. Idio-
1 Nowak TV, Ionasescu V, Anuras S. Gastrointestinal manifestations of the muscular dystrophies. Gastroenterology 1982;82:800 810. 2 Krain S, Rabinowitz JD. Radiologic features ofmyotonic dystrophy with presentation of new finding. Clinical Radiology 1971;22:462 465. 3 Fried K, Pajewski G, Mundel G, Caspi E, Spira R. Thin ribs in neonatal myotonic dystrophy. Clinical Genetics 1975;7:417 420. 4 Hughes DT, Swan JC, Gleeson JA. Abnormalities in swallowing associated with myotonia dystrophica. Brain 1965;88:1037 1042. 5 Bertrand L. Le Megacolon dans la Maladie de Steinert. Revue Neurologique 1949;81:480 486. 6 Kohn NN, Faires JS, Rodman T. Unusual manifestations due to involvement of involuntary muscles in dystrophica myotonia. New England Journal o f Medicine 1964;271:1179 1183. 7 Schuman BM, Rinaldo JA Jr, Darnley JD. Visceral changes in myotonic dystrophy. Annals oflnternal Medicine 1965;63:793 799. 8 Moss AA, Goldberg HI, Brotman M. Idiopathic intestinal pseudoobstruction. American Journal of Roentgenology 1972;115:312 317. 9 Simpson AJ, Khilnani MT. Gastrointestinal manifestations of the muscular dystrophies- a review of roentgen findings. American Journal of Roentgenology 1975;125:948-955. 10 MerrilGG. Complete absence ofthe left lobe ofthe liver. Archivesqf Pathology 1946;42:232 233. 11 Ahmed AF, Bedeiako AK, Rai D. Agenesis of the left hepatic lobe with gastric volvulus. New York State Journal of Medicine 1988;88:327-328. 12 Meyers HI, Jacobson G. Displacements of stomach and duodenum by anomalous lobes of the liver. American Journal o f Roentgenology 1958;79:789-792. 13 Aldridge LM. Anaesthetic problems in myotonic dystrophy; a case report and review of the Aberdeen experience comprising 48 general anaesthetics in a further 16 patients. British Journal o f Anaesthesia 1985;57:1119 1130.
