- Email: [email protected]
Cerebral edema in maple syrup urine disease
Volume 122 Number 1
REFERENCES 1. Nelson JC, Tindall DJ. A comparison of the adrenal responses to hypoglycemia, metyrapone and ACTH. Am J Med Sci 1978;275:165-72. 2. Limal JM, Basmacio Gullari A, Rappaport R. Evaluation of single oral dose metyrapone tests in children with hypopituitarism. Acta Paediatr Scand 1976;65:177-83. 3. Leisti S. Evaluation of 3-hour metyrapone test in children and adolescents. Clin Endocrinol 1977;6:305-20. 4. Alkalay AL, Pomerance J J, Puri AR, et al. Hypothalamic-pituitary-adrenal axis function in very low birth weight infants treated with dexamethasone. Pediatrics 1990;86: 204-10. 5. Rizvi ZB, Aniol HS, Myers TF, et al. Effects of dexamethasone on the hypothalamic-pituitary-adrenal axis in preterm infants. J PEDIATR 1992;120:961-4.
Cerebral e d e m a in maple syrup urine disease To the Editor: Cerebral edema is a well-recognized complication of maple syrup urine disease (MSUD) in the newborn period) "3 Additionally, cerebral edema and brain-stem compression may occur in children with MSUD with intercurrent infection or metabolic decompensation or both. 4 We have cared for an 18-year-old woman with MSUD and elevated levels of branched-chain amino acids, with subsequent development of cerebral edema that responded to dietary management. The patient, an 18-year-old black woman, was found to have classic MSUD in the first week of life. She has mild mental retardation, behavioral problems, and limited ability to live independently; her family has been unable to provide ideal supervision, and no adequate residential setting has been available. As a result, she had poor dietary compliance and persistently elevated serum leucine levels ranging between 760 and 1174 #mol/L (normal, 86 to 114 #mol/L) in the 10 months before the development of symptoms and signs of pseudotumor cerebri. She was receiving oral thiamine therapy and intramuscularly administered medroxyprogesterone every 3 months for contraception. Two months previously she had been hospitalized for "psychogenic syncope" and had begun psychiatric reevaluation. Two weeks before presentation she had experienced headaches, progressive diplopia and blurred vision, increased sleepiness, and swollen hands. A personal physician prescribed a hydrochlorothiazide-triamterene combination and ibuprofen, which were discontinued 4 days before hospitalization. An examination detected papilledema, and the patient was hospitalized. On admission to the hospital, the patient's vital signs and blood pressure were normal. She had marked acute papilledema with juxtapapillary retinal hemorrhages, mild left lateral rectus palsy and secondary but variable esotropia, and minimal periorbital
Editorial correspondence
16 7
edema. Best corrected visual acuity was 20/80 OD and 20/70 OS. Visual field examination was unsatisfactory. Neurologic findings were otherwise normal. Magnetic resonance imaging of the head showed sphenoid sinusitis and areas of demyelination consistent with MSLID s but no mass lesions or ventriculomegaly. Lumbar puncture revealed an opening pressure >550 mm Hg. Results of tests to exclude other causes of pseudotumor cerebri were normal. Leucine, isoleucine, and valine levels were 989 ttmol/L, 258 #mol/L (normal, 4 ! to 85 #mol/L), and 533 #mol/L (normal, 172 to 327 #mol/L), respectively. Cerebrospinal fluid leucine level was 173 nmol/L (normal, 6 to 18 ttmol/L). The patient was maintained in the hospital on a leucine-restricted diet, with normalization of levels of serum branched-chain amino acids within 6 days (leueine, isoleucine, and valine levels of 114 /amol/L, 67 t~mol/L, and 129 #mol/L, respectively). Lumbar puncture on the eighth hospital day revealed normal opening pressure. Cerebrospinal fluid leucine level was also normal (14/amol/ L). Examination documented disappearance of the left lateral rectus weakness, improvement of corrected visual acuity to 20/20 OD and 20/30 OS, and some reduction of the papilledema. Within I month of dietary control, the visual acuity was 20/20 OU and the optic disk edema resolved without atrophy. This case extends the increased intracranial pressure-pseudotumot cerebri spectrum reported in MSUD. Our patient was older and had a more subacute course than previously reported patients, probably because of the long-standing elevations of branchedchain amino acids as a result of chronic dietary noncompliance. Leucine levels were higher in neonates and infants with more acute symptoms. Maximum effort to attain good dietary control should be made in patients with MSUD even if they are free of symptoms~ Michael L. Levin, MD, MPH Anne Scheimann, MD Richard A. Lewis, AID Arthur L. Beaudet, MD Institute for Molecular Genetics Departments of Pediatrics and Ophthamology Baylor College of Medicine Houston, TX 77030-3498
9/35/42496 REFERENCES I. Lungarotti MS, Signorini E, Garibaldi LR. Cerebral edema in maple syrup urine disease. Am J Dis Child 1982;136:648. 2. Mantovani JF, Naidich TP, Prensky AL, Dodson WE, Williams JC. MSUD: presentation with pseudotumor cerebri and CT abnormalities. J PEOIA'rR 1980;96:279-81. 3. Mikati MA, Dudin GE, Der Kaloustian VM. Maple syrup urine disease with increased intracranial pressure. Am J Dis Child 1982;136:642-3. 4. Riviello JJ Jr, Rezvani I, DiGeorge AM, Foley CM. Cerebral edema causing death in children with maple syrup urine disease. J PEDIATR 1991;I!9:42-5. 5. Uziel G, Savoiardo M, Nardocci N. CT and MRI in maple syrup urine disease. Neurology 1988;38:486-8.
REFERENCES 1. Nelson JC, Tindall DJ. A comparison of the adrenal responses to hypoglycemia, metyrapone and ACTH. Am J Med Sci 1978;275:165-72. 2. Limal JM, Basmacio Gullari A, Rappaport R. Evaluation of single oral dose metyrapone tests in children with hypopituitarism. Acta Paediatr Scand 1976;65:177-83. 3. Leisti S. Evaluation of 3-hour metyrapone test in children and adolescents. Clin Endocrinol 1977;6:305-20. 4. Alkalay AL, Pomerance J J, Puri AR, et al. Hypothalamic-pituitary-adrenal axis function in very low birth weight infants treated with dexamethasone. Pediatrics 1990;86: 204-10. 5. Rizvi ZB, Aniol HS, Myers TF, et al. Effects of dexamethasone on the hypothalamic-pituitary-adrenal axis in preterm infants. J PEDIATR 1992;120:961-4.
Cerebral e d e m a in maple syrup urine disease To the Editor: Cerebral edema is a well-recognized complication of maple syrup urine disease (MSUD) in the newborn period) "3 Additionally, cerebral edema and brain-stem compression may occur in children with MSUD with intercurrent infection or metabolic decompensation or both. 4 We have cared for an 18-year-old woman with MSUD and elevated levels of branched-chain amino acids, with subsequent development of cerebral edema that responded to dietary management. The patient, an 18-year-old black woman, was found to have classic MSUD in the first week of life. She has mild mental retardation, behavioral problems, and limited ability to live independently; her family has been unable to provide ideal supervision, and no adequate residential setting has been available. As a result, she had poor dietary compliance and persistently elevated serum leucine levels ranging between 760 and 1174 #mol/L (normal, 86 to 114 #mol/L) in the 10 months before the development of symptoms and signs of pseudotumor cerebri. She was receiving oral thiamine therapy and intramuscularly administered medroxyprogesterone every 3 months for contraception. Two months previously she had been hospitalized for "psychogenic syncope" and had begun psychiatric reevaluation. Two weeks before presentation she had experienced headaches, progressive diplopia and blurred vision, increased sleepiness, and swollen hands. A personal physician prescribed a hydrochlorothiazide-triamterene combination and ibuprofen, which were discontinued 4 days before hospitalization. An examination detected papilledema, and the patient was hospitalized. On admission to the hospital, the patient's vital signs and blood pressure were normal. She had marked acute papilledema with juxtapapillary retinal hemorrhages, mild left lateral rectus palsy and secondary but variable esotropia, and minimal periorbital
Editorial correspondence
16 7
edema. Best corrected visual acuity was 20/80 OD and 20/70 OS. Visual field examination was unsatisfactory. Neurologic findings were otherwise normal. Magnetic resonance imaging of the head showed sphenoid sinusitis and areas of demyelination consistent with MSLID s but no mass lesions or ventriculomegaly. Lumbar puncture revealed an opening pressure >550 mm Hg. Results of tests to exclude other causes of pseudotumor cerebri were normal. Leucine, isoleucine, and valine levels were 989 ttmol/L, 258 #mol/L (normal, 4 ! to 85 #mol/L), and 533 #mol/L (normal, 172 to 327 #mol/L), respectively. Cerebrospinal fluid leucine level was 173 nmol/L (normal, 6 to 18 ttmol/L). The patient was maintained in the hospital on a leucine-restricted diet, with normalization of levels of serum branched-chain amino acids within 6 days (leueine, isoleucine, and valine levels of 114 /amol/L, 67 t~mol/L, and 129 #mol/L, respectively). Lumbar puncture on the eighth hospital day revealed normal opening pressure. Cerebrospinal fluid leucine level was also normal (14/amol/ L). Examination documented disappearance of the left lateral rectus weakness, improvement of corrected visual acuity to 20/20 OD and 20/30 OS, and some reduction of the papilledema. Within I month of dietary control, the visual acuity was 20/20 OU and the optic disk edema resolved without atrophy. This case extends the increased intracranial pressure-pseudotumot cerebri spectrum reported in MSUD. Our patient was older and had a more subacute course than previously reported patients, probably because of the long-standing elevations of branchedchain amino acids as a result of chronic dietary noncompliance. Leucine levels were higher in neonates and infants with more acute symptoms. Maximum effort to attain good dietary control should be made in patients with MSUD even if they are free of symptoms~ Michael L. Levin, MD, MPH Anne Scheimann, MD Richard A. Lewis, AID Arthur L. Beaudet, MD Institute for Molecular Genetics Departments of Pediatrics and Ophthamology Baylor College of Medicine Houston, TX 77030-3498
9/35/42496 REFERENCES I. Lungarotti MS, Signorini E, Garibaldi LR. Cerebral edema in maple syrup urine disease. Am J Dis Child 1982;136:648. 2. Mantovani JF, Naidich TP, Prensky AL, Dodson WE, Williams JC. MSUD: presentation with pseudotumor cerebri and CT abnormalities. J PEOIA'rR 1980;96:279-81. 3. Mikati MA, Dudin GE, Der Kaloustian VM. Maple syrup urine disease with increased intracranial pressure. Am J Dis Child 1982;136:642-3. 4. Riviello JJ Jr, Rezvani I, DiGeorge AM, Foley CM. Cerebral edema causing death in children with maple syrup urine disease. J PEDIATR 1991;I!9:42-5. 5. Uziel G, Savoiardo M, Nardocci N. CT and MRI in maple syrup urine disease. Neurology 1988;38:486-8.