Microcephaly associated with Legg-Calvè-Perthes disease in two siblings

The co-occurrence of microcephaly and Legg–Calvè–Perthes disease (LCPD) in members of the same family has been previously recorded only in two Hungarian brothers. To study the clinical and radiological phenotype in a (second) family with LCPD and microcephaly, clinical, X-ray and MRI follow-up study...

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Bibliographic Details
Published in:Neurological sciences 2012-12, Vol.33 (6), p.1401-1405
Main Authors: Savasta, Salvatore, Ruggieri, Martino, Pavone, Piero, Praticò, Andrea Domenico, Polizzi, Agata, Beluffi, Giampiero, Pavone, Vito
Format: Article
Language:English
Subjects:
Asymmetry
Brain
Case Report
Cerebellum
Child
Corpus callosum
Cortex
Cortex (temporal)
Eye
Female
Femur
Frontal lobe
Head
Humans
Hypoplasia
Legg-Calve-Perthes Disease - complications
Legg-Calve-Perthes Disease - diagnosis
Magnetic resonance imaging
Male
Medicine
Medicine & Public Health
Microcephaly - complications
Microcephaly - diagnosis
Microencephaly
Neuroimaging
Neurology
Neuroradiology
Neurosciences
Neurosurgery
Optics
Osteonecrosis
Psychiatry
Seizures
Siblings
Skull
Tentorium
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Summary:The co-occurrence of microcephaly and Legg–Calvè–Perthes disease (LCPD) in members of the same family has been previously recorded only in two Hungarian brothers. To study the clinical and radiological phenotype in a (second) family with LCPD and microcephaly, clinical, X-ray and MRI follow-up study of two Albanian siblings aged 8 and 11 years, were made. Both siblings had primary microcephaly, seizures and mild-to-moderate mental retardation. At head imaging the boy was found to have skull asymmetry, partial lack of frontal lobe development and partial agenesis of corpus callosum and the girl had a complex brain malformation consisting in thickening of the fronto-temporal cortex, colpocephaly, increased curvature of the Sylvian fissure, elevated tentorium with mild hypoplasia of the cerebellar vermis and dilated cisterna magna. In addition, the brother had ADHD and the sister minor eye anomalies mainly consisting in epicanthic folds and pale bilateral (temporal) optic disk. We recorded (and documented for the first time by brain MRI) a second family with familial co-occurrence of LCPD and microcephaly and the first occurrence of complex brain anomalies in the context of a small head circumference. The present report could encourage the observation of similar cases.
ISSN:1590-1874
1590-3478
DOI:10.1007/s10072-011-0891-y