Peripheral neuropathy associated with erythrophagocytic lymphohistiocytosis.

A 12 year old patient who developed clinical, biochemical and histological features of erythrophagocytic lymphohistiocytosis is described. In contrast to previously reported cases, the prominent neurological feature was a subacute sensorimotor polyneuropathy. Sural nerve biopsy showed a marked reduction of myelinated fibres and severe axonal lesions, absence of histiocyte infiltration and deposits of IgM along the epineurium. In addition to the hypertriglyceridaemia previously described in this condition, an elevation of plasma very long-chain fatty acids and phytanic acid was found which suggests a transient impairment of peroxisomal functions.

Congenital muscular dystrophy and cerebral CT scan anomalies. Results of a collaborative study of the Société de Neurologie Infantile.

We present the results of a collaborative study on the association of congenital muscular dystrophy with central nervous system anomalies revealed by CT scan investigation of 10 patients. In seven children, an abnormal hypodensity of the cerebral white matter is found; in four of these patients, this radiological anomaly is either isolated, or associated with a moderate intellectual impairment; in one case, severe mental retardation and ocular changes had occurred; in the other two cases, the muscular disease was progressing slowly, in association with microcephaly, epilepsy, and moderate mental retardation. Three children were afflicted with a severe early encephalopathy and congenital muscular dystrophy, and presented signs of cortical and subcortical atrophy on CT scan. Two of these patients corresponded to different types of cerebro-ocular dysplasia-muscular dystrophy syndromes, and the third patient of Fukuyama's congenital muscular dystrophy. These observations are discussed and compared with those reported in the literature. The authors emphasize the need to investigate possible cerebral CT scan anomalies in congenital muscular dystrophies, and to look for muscular changes in some prenatal encephalopathies.

[Intraspinal epidermoid cysts and lumbar punctures]. / Kystes épidermoïdes intrarachidiens et ponctions lombaires.

The authors describe a case of intra-spinal epidermoid cyst and recall the scarcity of the symptoms of such tumors and their slow evolution and emphasize the very likely part taken by spinal punctures in the genesis of a number of them.

[Status epilepticus in the infant. Semeiologic, etiologic and prognostic aspects]. / Etats de mal convulsifs du nourrisson. Aspects sémiologiques, étiologiques et pronostiques.

During a 4 year period, 79 infants aged from 1 month to 2 years suffered a status epilepticus (SE). The seizures were most often either generalized of tonic-clonic or clonic type, or unilateral clonic; they lasted or were repeated with persistent unconsciousness between the seizures for periods ranging from 30 min to several days. All the cases of SE lasting over 6 h resulted from a recognizable acute brain injury, whereas 11 of 14 cases lasting 1 h or less were cryptogenic. In 2 cases only, the neurological status was worse after the status, apparently as a result of the seizures themselves. The authors discuss the hypothesis of purely febrile HH syndrome and point out the importance of detailed clinical ictal and interictal characteristics for the etiological approach.

[Calcinosis of childhood dermatomyositis. Apropos of 10 cases]. / Les calcinoses des dermatomyosites infantiles. A propos de 10 cas.

Twenty-eight children were diagnosed as having dermatomyositis (DM) on the basis of the criteria of Bohan and Peter. Ten of the 28 children developed calcinosis. Calcium deposits mainly occurred in DM with gradual onset of symptoms and with a chronic course. Calcinosis always appeared insidiously and early during the active stage of the disease. It persisted for a long time beyond the remission of the active muscle symptoms without tendency to spontaneous resolution. Long-term follow-up data substantiate calcinosis as the most frequent and the most serious sequela in this series of childhood DM.

[Hypothalamic hamartoma and gelastic crises. Apropos of 7 cases]. / Hamartomes hypothalamiques et crises de rire. A propos de 7 observations.

Seven cases of hypothalamic hamartomas with gelastic seizures are reported. A precocious puberty was found in 4 cases. The normal neurologic examination and lack of sign of intracranial hypertension were in contrast with the severity of the epileptic seizures, of the mental impairment and of the behavioral disorders. The fact that the presenting symptom may be gelastic seizures is stressed. CT scan is the best means to assess the diagnosis and to follow the evolution of these tumors. Except for the management of the precocious puberty, the treatment is disappointing and neurosurgical indications are quite exceptional.

[Hypothalamic hamartomas and laughing seizures]. / Hamartomes hypothalamiques et crises de rire.

The authors report 7 new cases of children with laughing seizures associated with hamartoma of the hypothalamus. Precocious puberty is present in 4 cases and seizures of another type (clonic or tonic) in 5 cases. The diagnosis is confirmed by histology (2 cases) or by CT scan (5 cases). The interictal EEG abnormalities are detailed as well as those found during the laughing seizures which were registered (3 cases). The literature was reviewed and 18 cases were found with posterior hypothalamic lesions and laughing seizures: they have been studied and compared with ours. The role of hamartoma is discussed in the production of these seizures, either isolated laughing seizures or else laughing seizures accompanied with other symptoms.

[Adrenoleukodystrophy in children. Apropos of 20 cases]. / Adrénoleucodystrophie chez l'enfant. A propos de 20 observations.

Adrenoleukodystrophy (ALD) is a sex-linked recessive metabolic encephalopathy usually beginning in childhood. This series of 20 cases showed the following associated symptoms: mental deterioration (20 cases), behavior modification (19 cases), decreased visual acuity (17 cases), deafness (13 cases) and seizures (7 cases). Adrenal insufficiency often consisted only of melanoderma (13 cases). Diagnosis was assessed by characteristic CT-scan findings (8 of 13 cases), adrenocortical insufficiency partial glucocorticoid (19 of 19 investigated cases) or global, mineralo- and involving both aldosterone and glucocorticoid hormones (9 of 17 investigated cases) and by the presence of specific inclusions on the skin and/or conjunctival biopsy (5 of 7 cases).

[Sturge-Weber disease: value of the topographic analysis of the facial angioma for the diagnosis of associated pial angioma (author's transl)]. / Maladie de Sturge-Weber. Intérêt de l'analyse topographique de l'angiome cutané pour le diagnostic d'angiome pial associé.

A retrospective study was undertaken in 47 children with congenital capillary naevus of the face in order to appreciate the predictive value of the topography of the facial angioma for the diagnosis of associated pial angioma. In patients with Sturge-Weber disease, facial angioma concerned the whole upper eyelid, extending to the forehead and/or cheek. Less often, it was localized to the root of the nose; in such cases it was a port-wine, homogeneous angioma, with clearcut outlines, quite different from the angiomatous dots frequently seen in this area in neonates. Except for these rare cases, angiomas concerned only half or less of the upper eyelid and no pial angioma was associated. Finally, congenital capillary naevi with this topography typical of Sturge-Weber disease were frequently associated with pial angioma.

[Thalamic tumors in children. A study of 38 cases (author's transl)]. / Tumeurs des noyaux gris chez l'enfant. A propos de trente-huit observations.

The main clinical, evolutive and therapeutic features of thalamic tumors are reviewed in 38 children. Signs of increased intracranial pressure (76% of the cases) and of controlateral hemiparesis of varying degree (76% of the cases) were the main clinical symptoms. CT-scan is the best means of investigation. Therapeutic protocols that seem to obtain the best results consist of radiotherapy (between 45 and 55 grays) associated with shunting, when intracranial hypertension results from obstruction of an interventricular foramen by the tumor. Surgery is contra-indicated in most tumors in this area.

[Larsen's syndrome. Clinical findings and inheritance (author's transl)]. / Le syndrome de Larsen. Aspects cliniques et génétiques.

Three new case reports of Larsen's syndrome (multiple congenital dislocations of the joints, distinctive facies and skeletal abnormalities) are presented. For the first time this condition is described to be associated with deafness and retinal dysplasia. Data in the literature show this syndrome to be inherited as sporadic, autosomal recessive or dominant. The 3 reported cases seem to have and autosomal recessive inheritance.

[Optic neuritis in children. Clinical aspects and evolution in 14 patients (author's transl)]. / Névrites optiques de l'enfant. Aspects cliniques et évolutifs à propos de 14 observations.

Fourteen children presenting with optic neuritis are reported. Bilateral ocular lesions and papilledema were present in 80% of cases. Biological investigations did not show any local production of IgG or anti-measles antibodies, contrary to what is observed in adults. CAT scan most always rules out a tumoral compression that could be responsible for a sudden decrease in visual acuity. Prognostic factors helpful in predicting evolution towards multiple sclerosis are discussed.

[Benign intracranial hypertension in infancy and childhood. Comment upon 33 cases (author's transl)]. / Hypertension intracrânienne bénigne du nourrisson et de l'enfant. Commentaires à propos de trente-trois observations.

The authors report 33 observations concerning benign intracranial hypertension in 4 months to 15 year-old children. They emphasize the prevalence of this syndrome and the frequent absence of papilloedema at this age period. CCT scan is the neuroradiologic procedure of choice to exclude an intracranial lesion. It is important to note the exceptional evolution to a secondary optic atrophy.

[Intramedullary tumors in children. Apropos of 30 cases]. / Tumeurs intra medullaires de l'enfant. A propos de 30 cas.

Thirty cases of primary intramedullary tumours have been analysed (17 astrocytomas, 6 ependymomas, 6 non-glial tumours) and 10 have died. The long delay in diagnosis (more than 3 years) must be emphasised. The value of myelography, the natural history and treatment are discussed.