vious EEG abnormalities were present in 15 patients: in 8 mothers or fathers of the proband and in 7 relatives. In 18 patients after informed consent was obtained, blood was drawn for DNA analysis which will be performed by Prof. A.V. DelgadoEscueta. Segregation analysis indicated that a total of 16 ascendants of the propositus and 15 collaterals were affected. The uniform clinical and EEG picture of the probands should be quite helpful in identifying a genetic locus and also the genetic relationship with juvenile myoclonus epilepsy or other types of generalized epilepsy.
357. CEREBELLOMEDULLARY COMPRESSION IN RECESSIVE CRANIOMETAPHYSEAL DYSPLASIA Eugen Boltshauser, Bernhard Schmitt, Werner Wichmann, Anton Valavanis, Hermann Sailer, and Yasuhiro Yonekawa, Ziirich, Switzerland Craniometaphyseal dysplasia (CMD) is a very rare disorder of bone remodeling characterized by sclerosis of the skull base, vault, and facial bones and metaphyseal splaying of the tubular bones. The recessive form [McKusick 218'400] is more severe than the dominant form. Cranial nerve deficits have been reported in infancy and early childhood in a few patients, but the long-term history of recessive CMD has not been documented. We report cerebellomedullary compression in a girl with recessive CMD. The diagnosis was established at 12 months because of evolving bilateral facial palsy and paraglabellar bossing. Evolving disc pallor and nystagmus prompted bilateral optic nerve decompression and bifrontal craniectomy at the age of 21 months and, in view of restenosis of the optic canals, at 5 years. Additional cranial nerve deficits included anosmia and conductive heating loss due to encroachment of middle ear cavities. At 14 years, progressive truncal ataxia led to recognition of compression upon the cervicomedullary junction: there was backward angulation of the thickened clivus, narrowing of the foramen magnum and upward deviation of the cerebellum by a markedly thickened occipital squama, tonsillar herniation, and obliteration of infratentorial CSF spaces. There was no hydrocephalus. Posterior foramen magnum decompression resulted in marked improvement of ataxia. Compression of posterior fossa structures needs to be considered in the management of CMD.
in our present series of 12 children with JS, who fulfill the cardinal features. No patient had clinical evidence of congenital retinal dystrophy. One child had normal kidneys at autopsy and 11 children (ages 1 month to 15 years) had no evidence of multicystic kidneys on ultrasonography. We followed 2 patients with congenital retinal blindness, multicystic kidneys, and vermis aplasia, whose "diagnostic label" is debatable. We conclude that kidneys are not affected in JS without retinal dystrophy. There may be a subgroup (or different syndrome) of patients with both renal cysts plus retinal dystrophy, as suggested by Saraiva and Baraitser [Am J Med Genet 1993;43:726].
359. UNILATERAL CEREBELLAR APLASIA/HYPOPLASIA Eugen Boltshauser, Thierry Deonna, Bernhard Schmitt, Ernst Martin, Markus Schmid, and Georg Eich, Zurich and Lausanne, Switzerland Cerebellar midline malformations are relatively common; symmetric cerebellar hypoplasia is less common, but does occur as part of various (i.e., viral, chromosomal, genetic) syndromes. However, unilateral cerebellar aplasia/hypoplasia seems exceptional. Relevant data of 3 of our patients are presented. Deliveries at term and neonatal periods were uneventful. Pregnancy was normal in 1 and complicated by bleeding (in second and fourth month, respectively) in 2 instances. Presenting signs were delayed motor development with marked contralateral torticollis (n = 1), hemiplegia (n = 1), and unusual head nodding (n = 1). Neuroradiologic investigations revealed aplasia (n = 1) and marked hypoplasia (n = 2) of one cerebellar hemisphere with only a residual wing-like structure below the tentorium. There was contralateral underdevelopment of the brainstem. The infant with hemiplegic cerebral palsy had an additional supratentorial periventricular parenchymal defect, contralateral to cerebellar hypoplasia. The follow-up was too short in 2 children with suspected mental retardation, while an 8-year-old boy with persistent head nodding attends normal school. Although the nature and the timing of these cerebellar lesions are speculative, a prenatal, presumably ischemic, insult is considered.
358. J O U B E R T SYNDROME: ARE KIDNEYS AFFECTED? Eugen Boltshauser, Ishilde Forster, Ulrich Willi, Thierry Deonna, Ernst Leumann, and Albert Schinzel, Zurich, Switzerland
360. P O S T I C T A L C E R E B R A L H E M I A T R O P H Y : HEMICONVULSION-HEMIPLEGIA-EPILEPSY SYNDROME Mustafah AM. Salih, Mohammad M. Kabiraj, Ahmed I. A1Jarallah, and Vijay A. Palkar, Riyadh, Saudi Arabia
Joubert syndrome (JS) is a rare autosomal-recessive condition [McKusick 213 300]. Absence or marked hypoplasia of the cerebellar vermis is a diagnostic prerequisite, but the diagnosis should not be made on the evidence of vermis hypoplasia alone. Other cardinal features are episodic tachypneaJapnea in the neonatal period, "jerky eye movements" (oculomotor apraxia), hypotonia, and mental retardation. As long as the gene is not identified, delineation of JS may be debatable in individual patients with additional reported findings, such as retinal dystrophy, occipital mengingocele, multicystic kidneys, and polydactyly. An overlap of JS with other syndromes (Leber amaurosis, Arima syndrome, some types of orofacial digital syndromes, GruberMeckel syndrome) is possible. Renal involvement was checked
Four children who developed cerebral hemiatrophy and hemiplegia/hemiparesis following prolonged epileptic seizures are described. They were 2 males and 2 females. The duration of seizures ranged from 30 min to 12 hours and occurred at ages 1-3 years. They were in the form of hemiconvulsion in 3 children (left- and right-sided in 2 and 1 patients, respectively) and followed by ipsilateral hemiplegia. The fourth child had a generalized tonic-clonic seizure with deviation of the face to the right, followed by left-sided hemiparesis. Residual sequelae were minimal in 3 patients, whereas the fourth (who sustained a seizure of 12 hours) had choreiform movements, contracture deformities, and severe mental retardation. Subsequent seizures (i.e., focal and generalized tonic-clonic) remained in 3 patients and could be
178 PEDIATRICNEUROLOGY Vol. 11 No. 2