An unusual case of the Landau-Kteffner syndrome B.J.J. Ansink, H. Sarphatie, H.R. van Dongen (Amsterdam, Rotterdam) The life history of a girl born in 1984 is described from birth. All children born in the Sint Lucas Ziekenhuis from 1983 to 1985 were assessed neurologically by B. J. J. A. She suffered her first epileptic fits at the age of one year and 10 months, initially without EEG abnormalities. When 2 years old, she developed global aphasia, preceded by status epilepticus. Her language development, precisely documented, had been completely normal before this. In the acute phase of her illness she showed several other cortical dysfunctions: cortical worddeafness, manifesting as neglect of speech, optic agnosia and visuo-spatial disturbances. There was also severe apraxia. Her EEG showed multifocal epileptic discharges. The epilepsy was treated with valproate with succes, the other defects with speech therapy and special educational training. This resulted in a slow gradual improvement, the language disabilities being the last to recover. In March 1988, she was able to pronounce about 40 words, but her receptive language capacities were much better. In this period, a mild bucco- Glutarie aciduria type I in two siblings. A.M. Weber, P.G. Barth, R. Schutgens (Amsterdam) We present two siblings, a boy and a girl, with glutaric aciduria type I (GA I). The eldest, a boy, was born with macrocepha- ly (P95, +4SD) and his developmental mile- stones appeared to be delayed during his first year. He was admitted at the age of 16 months, with an encephalitis-like illness after Rotavirus enteritis. He was severely hypotonic and sub- sequently became severely dystonic and suffered from excessive sweating. At presentation there was metabolic acidosis (pH 7.31, B.E. -6.3) with normal glucose. Uri- nary organic acid analysis revealed peaks of glutaric acid, alpha-OHglutaric acid and adipic acid. Glutaryl-CoA-dehydrogenase activity in 288 facial apraxia was still present. The diagnosis Landau-Kleffner Syndrome was made. Our patient is evidently in the cate- gory, (16% of all cases), in which the epileptic manifestation precedes the aphasia. The combi- nation with several other cortical dysfunctions suggests, that the elementary basis of the syndrome should not be sought in the language circuits only, but in several places in the cortex or in the supramodal region of the hippocam- pus, where several circuits of cognitive function- ing converge. No anatomical basis for the dis- ease has ever been found. Electra-physiological phenomena may be responsible, blocking the normal processes in synapses and neurons, forming the basis of cognitive activities. This case is special in several respects: well documented premorbid development t the very young age of the child and the beginning of the illness with status epilepticus. The specific defects in her behaviour were carefully analysed and documented. Acknowledgements to Mrs J. E. Albrecht , speech therapist for her examination results and Dr. J.F.M. Hdlscher, pediater, for referring the patient. fibroblasts was low, 0.18 um0Vh.g protein (con- trol 7.5). A CT-scan and NMR of the brain showed frontal and temporal atrophy resulting in an abnormally wide Sylvian fissure. There was widening of the ventricles and periventric- ular encephalopathy and atrophic corpus callo- sum. In the kidneys multiple small ‘cysts’ were seen. Treatment consisted of a restricted protein diet (1.5 g/kg/day), L-carnitine 100 mg/kg/day, Riboflavin 100 mg/day and Lioresal 2 mg/kg/ day. With this treatment scheme glutaric acid excretion decreased and did not rise more than half of the initial level. His neurobgic status has improved slightly over the last 10 months. The dystonia was tempered obviously and immedi- ately after start with Lioresal. The boy was diag- nosed as suffering from GA1 when his mother

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Page 1: An unusual case of the Landau-Kleffner syndrome

An unusual case of the Landau-Kteffner syndrome

B.J.J. Ansink, H. Sarphatie, H.R. van Dongen (Amsterdam, Rotterdam)

The life history of a girl born in 1984 is described from birth. All children born in the Sint Lucas Ziekenhuis from 1983 to 1985 were assessed neurologically by B. J. J. A. She suffered her first epileptic fits at the age of one year and 10 months, initially without EEG abnormalities. When 2 years old, she developed global aphasia, preceded by status epilepticus. Her language development, precisely documented, had been completely normal before this. In the acute phase of her illness she showed several other cortical dysfunctions: cortical worddeafness, manifesting as neglect of speech, optic agnosia and visuo-spatial disturbances. There was also severe apraxia. Her EEG showed multifocal epileptic discharges.

The epilepsy was treated with valproate with succes, the other defects with speech therapy and special educational training. This resulted in a slow gradual improvement, the language disabilities being the last to recover. In March 1988, she was able to pronounce about 40 words, but her receptive language capacities were much better. In this period, a mild bucco-

Glutarie aciduria type I in two siblings.

A.M. Weber, P.G. Barth, R. Schutgens (Amsterdam)

We present two siblings, a boy and a girl, with glutaric aciduria type I (GA I).

The eldest, a boy, was born with macrocepha- ly (P95, +4SD) and his developmental mile- stones appeared to be delayed during his first year. He was admitted at the age of 16 months, with an encephalitis-like illness after Rotavirus enteritis. He was severely hypotonic and sub- sequently became severely dystonic and suffered from excessive sweating.

At presentation there was metabolic acidosis (pH 7.31, B.E. -6.3) with normal glucose. Uri- nary organic acid analysis revealed peaks of glutaric acid, alpha-OHglutaric acid and adipic acid. Glutaryl-CoA-dehydrogenase activity in

288

facial apraxia was still present. The diagnosis Landau-Kleffner Syndrome

was made. Our patient is evidently in the cate- gory, (16% of all cases), in which the epileptic manifestation precedes the aphasia. The combi- nation with several other cortical dysfunctions suggests, that the elementary basis of the syndrome should not be sought in the language circuits only, but in several places in the cortex or in the supramodal region of the hippocam- pus, where several circuits of cognitive function- ing converge. No anatomical basis for the dis- ease has ever been found. Electra-physiological phenomena may be responsible, blocking the normal processes in synapses and neurons, forming the basis of cognitive activities.

This case is special in several respects: well documented premorbid development t the very young age of the child and the beginning of the illness with status epilepticus. The specific defects in her behaviour were carefully analysed and documented.

Acknowledgements to Mrs J. E. Albrecht , speech therapist for her examination results and Dr. J.F.M. Hdlscher, pediater, for referring the patient.

fibroblasts was low, 0.18 um0Vh.g protein (con- trol 7.5). A CT-scan and NMR of the brain showed frontal and temporal atrophy resulting in an abnormally wide Sylvian fissure. There was widening of the ventricles and periventric- ular encephalopathy and atrophic corpus callo- sum. In the kidneys multiple small ‘cysts’ were seen.

Treatment consisted of a restricted protein diet (1.5 g/kg/day), L-carnitine 100 mg/kg/day, Riboflavin 100 mg/day and Lioresal 2 mg/kg/ day. With this treatment scheme glutaric acid excretion decreased and did not rise more than half of the initial level. His neurobgic status has improved slightly over the last 10 months. The dystonia was tempered obviously and immedi- ately after start with Lioresal. The boy was diag- nosed as suffering from GA1 when his mother