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Autosomal recessive microcephaly with neonatal myoclonic seizures: clinical and MRI findings
R Straussberg1, L Kornreich, L Harel
1Department of Pediatrics C, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel.
Insights
This study details a rare neurological disorder in infants with severe microcephaly and myoclonic seizures, potentially endemic in Palestinian families. It includes the first reported magnetic resonance imaging (MRI) findings for this condition.
Area of Science:
- Pediatric Neurology
- Clinical Genetics
- Neuroimaging
Background:
- Describes a severe infantile neurological disorder characterized by microcephaly, myoclonic seizures, hypsarrythmia, spasticity, and profound intellectual disability.
- Highlights the condition's potential endemic nature within Palestinian populations, noting previous reports in unrelated families.
- Compares the syndrome to previously described early-onset myoclonic seizures and spasticity, emphasizing the limited number of reported cases (four sib pairs).
Observation:
- Presents a case of an infant with severe microcephaly, myoclonic seizures, hypsarrhythmia, spasticity, hypertonicity, and profound intellectual disability.
- Reports a similar case in an unrelated Palestinian family, reinforcing the possibility of an endemic condition.
- Compares the syndrome to previously described early-onset myoclonic seizures and spasticity.
Findings:
- Details the clinical presentation of the affected infant.
- Provides the first reported magnetic resonance imaging (MRI) findings for this specific syndrome.
- Includes radiological findings alongside clinical observations.
Implications:
- Contributes novel neuroimaging data to the understanding of this rare pediatric neurological disorder.
- May aid in the diagnosis and genetic counseling for families with similar conditions.
- Suggests the need for further research into the genetic basis and prevalence of this syndrome in specific populations.
Abstract:
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.