Autosomal recessive microcephaly with early onset seizures and spasticity

Silengo, Margherita; Lerone, Margherita; Martinelli, M.; Martucciello, G.; Caffarena, P. E.; Jasonni, Vincenzo; Romeo, G.

doi:10.1111/j.1399-0004.1992.tb03228.x

Cited by 11 publications

References 11 publications

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Autosomal recessive microcephaly with neonatal myoclonic seizures: Clinical and MRI findings

et al. 1998

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We describe an infant who was born to a consanguineous couple of Palestinian origin. The patient had severe microcephaly, myoclonic seizures, hypsarrythmia, spasticity, hypertonicity, and profound mental retardation. A similar case was reported in another unrelated Palestinian family, suggesting that this condition may be endemic. The condition resembles early onset myoclonic seizures and spasticity described by Tolmie et al.: Am J Med Genet 27:583-594 [1987]. To the best of our knowledge, only four pairs of sibs have been described with this syndrome; however, to date no magnetic resonance imaging (MRI) findings were reported for this condition. We present the clinical and radiological findings in the patients, including the first report of MRI findings.

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Autosomal recessive microcephaly with neonatal myoclonic seizures: Clinical and MRI findings

et al. 1998

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Alpers progressive infantile neuronal poliodystrophy: An acute neonatal form with findings of the fetal akinesia syndrome

Frydman

Jäger‐Roman

Vries³

et al. 1993

Am. J. Med. Genet.

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We report on 8 patients from two families with Alpers syndrome. The onset in one family was prenatal and in the 4 patients who were examined, severe microcephaly, intrauterine growth retardation, and typical manifestations of fetal akinesia, including retrognathia, joint limitations, and chest deformity were found. The second family presented with an early infantile form. All the affected offspring had micrognathia and one had findings of fetal akinesia, comparable to those seen in the other family. Microcephaly was mild at birth and progressed with age. Refractory neonatal convulsions, swallowing difficulties, and pneumonia complicated the clinical course of patients in both families, and all the patients died before age 20 months. Results of comprehensive biochemical and metabolic studies in both families were normal and the diagnosis was supported by demonstration of extensive progressive brain atrophy on CT and typical histological findings. Patients without a detectable defect in energy metabolism and normal liver histology comprise a distinct subset of Alpers syndrome. Until the metabolic defect(s) is defined, we suggest naming the acute neonatal form of this subset of Alpers syndrome "type 1."

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Autosomal‐recessive microcephaly in two siblings, one with normal IQ and both with protruding mandible, small ears, and curved nose

Rizzo

Pavone

1995

Am. J. Med. Genet.

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We report on 2 sibs with severe microcephaly and unusual associated manifestations. The brother has borderline/normal intelligence, episodic seizures, clumsiness, and the more severe of facial manifestations; the sister has normal IQ and neither seizures nor behavior abnormalities. Small ears, markedly protruding midface, curved nose, and severe retrognathia are present in both sibs. We postulate that our patients have a "new" form of AR microcephaly, since normal intelligence is not found, nor are the associate findings as pronounced, as in other, more common forms of AR microcephaly (i.e., "microcephalia vera").

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Autosomal recessive microcephaly with early onset seizures and spasticity

Cited by 11 publications

References 11 publications

Autosomal recessive microcephaly with neonatal myoclonic seizures: Clinical and MRI findings

Autosomal recessive microcephaly with neonatal myoclonic seizures: Clinical and MRI findings

Alpers progressive infantile neuronal poliodystrophy: An acute neonatal form with findings of the fetal akinesia syndrome

Autosomal‐recessive microcephaly in two siblings, one with normal IQ and both with protruding mandible, small ears, and curved nose

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