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MRS findings in five Turkish patients
Al 08 tine. There were 13 girls, 27 boys. For 37 of 40 patients the follow-up period was 6 months - 14 years, while three patients were lost to follow-up. 23 of 40 patients were the product of consanguineous marriage. There were six siblings. Megalencephalus was detected in 13 of 40 patients, MRI was performed in 40, ammo acid/ organic screening in 20, arylsulphatase-A activity in 19, MRS in 10, CT in six, and plasma assay of very-longchain fatty acid investigations in two patients. The diagnosis were metachromatic leukodystrophy (MLD) in 13, cystic leukoencephalopathy with megalencephaly (CLM) in 10, L-2-hydroxyglutaric aciduria (L2 HGA) in five, Pelizaeus-Merzbacher disease in three, and adrenoleukodystrophy (ALD) in two patients. In nine patients, we could not subclassify the leukodystrophy. This study revealed that: MLD and CLM were seen much more than the other leukodystrophies; MRI findings of L2 HGA, ALD and CLM have characteristic features in the light of the clinical pictures; L2 HGA can show clinical heterogeneity and a different clinical course; CLM showed the best prognosis in this group; Although the imaging technique and screening tests for inborn errors are developed quickly, we need much more investigation, especially in genetics.
221 L-2-Hydroxyglutaric aciduria: Clinical heterogeneity, MRVMRS findings in five Turkish patients Z YAPICI UCGUL,’ A DINCER,’ M BARLAS,’ M ERAKSOY’ ‘Department of Neurology, Division of Child Neurology, Istanbul Medical Faculty; ‘Department of Radiology, Istanbul, Turkey
L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare organic aciduria with autosomal recessive inheritance. We present five patients (with clinical, biochemical, MRI and/or MRS findings) in whom this entity was suspected. Patient 1 (12-years-old female) presented with febrile convulsions, retardation in walking at 2 years, epilepsy at 10 years of age. She is a macrocephalic patient. Patient 2 (g-year-old male) had normal development milestones. The initial presenting sign was difficulty in learning at school and recent cerebellar signs. Patient 3 (18-year-old female; the sister of patient 2) presented with generalized convulsions and psychomotor retardation (PR) at 1.5 years of age. She began to walk at 2.5 years with unsteady gait. She was bedridden at 14 years with spastic tetraparesis. Patient 4 ($-year-old female) had microcephalus, PR, hypotonia and generalized dystonia. Patient 5 (13-year-old male) diagnosed because of PR after 3 years of age, febrile seizures and mild cerebellar signs. Three of five patients (Patient 2, Patient 3, Patient 5), had consanguinity of parents (first degree). The youngest (Patient 4) and the biggest (Patient 3) were most severely handicapped while others had a less pronounced psychomotor retardation.
Abstracts The urinary excretion of L-2-HG acid increased in all patients. Their MRIs revealed high signal intensity on T2weighted images of the subcortical white matter in all and dentate nuclei and basal ganglia in particular the globus pallidus in four of them. MRS performed in three (Patient 1, Patient 2, Patient 3) showed decrease of NAA, increase of myoinositol and decrease of choline-containing compounds in white matter. Our findings reinforce the clinical heterogeneity DS biochemical and imaging similarities and different clinical course within a family.
Section XII: Muscles and nerves 208 Myositis and interstitial bOY
nephritis in a 20-month-old
C ADAMS, A WADE, J-F LEMAY, A PINTO Alberta Children’s Canada
Hospital,
University
of Calgary,
Calgary,
A boy presented at age 15 months with loss of ability to walk and crawl due to weakness. Eight days previously he had a rash on his hands, feet, legs, arms and face. His creatine kinase (CK) was 2689IU/litre. He quickly improved and his strength returned to normal. He first walked at 13 months. At 20 months he was running and kicking a ball. At this time he had recurrence of his weakness. He had no evidence of infection. Strength was grade 3 in the arms, grade 2 at hip flexors and grade 3 at knee extensors and foot dorsiflexors. His weakness progressed over 2 days and he required ventilation. His blood pressure was 140/90 and his CK was 9977IU/litre. He had proteinuria and haematuria, that was presumed to be due to myoglobinuria. Cerebrospinal fluid had protein 0.11 g/litre, with 22 x 106/litre white blood cells (61% lymphocytes, 29% monocytes). Nerve conduction studies of motor and sensory nerves and median F wave were normal. Electromyography of tibialis anterior and biceps was myopathic. Muscle biopsy showed a patchy myositis with a lymphocytic infiltrate and degenerating fibres with some fascicles more affected than others. There was no increase in fibrous tissue and no evidence of vasculitis. Urine toxic screen was negative. Skin biopsy was normal. Throat swab, cerebrospinal fluid and stool culture for virology and bacteria were negative. Viral serology, including coxsackie, and toxoplasmosis serology were negative. Antinuclear antibody (ANA), rheumatoid factor (Rh F) were negative, immunoglobulins were normal and erythrocyte-sedimentation rate was 17mm/h. Cardiac ECHO was normal. He was treated with solumedrol 2g/kg/day initially and his strength improved. His CK was normal after 8 days. He required antihypertensives. His prednisone was tapered over 1 month and he was able to walk. After discontinuation of the prednisone his strength decreased with CK elevation to 5672 IU/litre. With prednisone he regained most of his strength and his CK returned to normal. He also had an intermittent rash on his palms and soles which seemed to
221 L-2-Hydroxyglutaric aciduria: Clinical heterogeneity, MRVMRS findings in five Turkish patients Z YAPICI UCGUL,’ A DINCER,’ M BARLAS,’ M ERAKSOY’ ‘Department of Neurology, Division of Child Neurology, Istanbul Medical Faculty; ‘Department of Radiology, Istanbul, Turkey
L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare organic aciduria with autosomal recessive inheritance. We present five patients (with clinical, biochemical, MRI and/or MRS findings) in whom this entity was suspected. Patient 1 (12-years-old female) presented with febrile convulsions, retardation in walking at 2 years, epilepsy at 10 years of age. She is a macrocephalic patient. Patient 2 (g-year-old male) had normal development milestones. The initial presenting sign was difficulty in learning at school and recent cerebellar signs. Patient 3 (18-year-old female; the sister of patient 2) presented with generalized convulsions and psychomotor retardation (PR) at 1.5 years of age. She began to walk at 2.5 years with unsteady gait. She was bedridden at 14 years with spastic tetraparesis. Patient 4 ($-year-old female) had microcephalus, PR, hypotonia and generalized dystonia. Patient 5 (13-year-old male) diagnosed because of PR after 3 years of age, febrile seizures and mild cerebellar signs. Three of five patients (Patient 2, Patient 3, Patient 5), had consanguinity of parents (first degree). The youngest (Patient 4) and the biggest (Patient 3) were most severely handicapped while others had a less pronounced psychomotor retardation.
Abstracts The urinary excretion of L-2-HG acid increased in all patients. Their MRIs revealed high signal intensity on T2weighted images of the subcortical white matter in all and dentate nuclei and basal ganglia in particular the globus pallidus in four of them. MRS performed in three (Patient 1, Patient 2, Patient 3) showed decrease of NAA, increase of myoinositol and decrease of choline-containing compounds in white matter. Our findings reinforce the clinical heterogeneity DS biochemical and imaging similarities and different clinical course within a family.
Section XII: Muscles and nerves 208 Myositis and interstitial bOY
nephritis in a 20-month-old
C ADAMS, A WADE, J-F LEMAY, A PINTO Alberta Children’s Canada
Hospital,
University
of Calgary,
Calgary,
A boy presented at age 15 months with loss of ability to walk and crawl due to weakness. Eight days previously he had a rash on his hands, feet, legs, arms and face. His creatine kinase (CK) was 2689IU/litre. He quickly improved and his strength returned to normal. He first walked at 13 months. At 20 months he was running and kicking a ball. At this time he had recurrence of his weakness. He had no evidence of infection. Strength was grade 3 in the arms, grade 2 at hip flexors and grade 3 at knee extensors and foot dorsiflexors. His weakness progressed over 2 days and he required ventilation. His blood pressure was 140/90 and his CK was 9977IU/litre. He had proteinuria and haematuria, that was presumed to be due to myoglobinuria. Cerebrospinal fluid had protein 0.11 g/litre, with 22 x 106/litre white blood cells (61% lymphocytes, 29% monocytes). Nerve conduction studies of motor and sensory nerves and median F wave were normal. Electromyography of tibialis anterior and biceps was myopathic. Muscle biopsy showed a patchy myositis with a lymphocytic infiltrate and degenerating fibres with some fascicles more affected than others. There was no increase in fibrous tissue and no evidence of vasculitis. Urine toxic screen was negative. Skin biopsy was normal. Throat swab, cerebrospinal fluid and stool culture for virology and bacteria were negative. Viral serology, including coxsackie, and toxoplasmosis serology were negative. Antinuclear antibody (ANA), rheumatoid factor (Rh F) were negative, immunoglobulins were normal and erythrocyte-sedimentation rate was 17mm/h. Cardiac ECHO was normal. He was treated with solumedrol 2g/kg/day initially and his strength improved. His CK was normal after 8 days. He required antihypertensives. His prednisone was tapered over 1 month and he was able to walk. After discontinuation of the prednisone his strength decreased with CK elevation to 5672 IU/litre. With prednisone he regained most of his strength and his CK returned to normal. He also had an intermittent rash on his palms and soles which seemed to