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• W2133202433 abstract "The combination of microcephaly, spasticity, and profound mental retardation is usually found in children with severe perinatal asphyxia or congenital infection. These children are commonly diagnosed as having cerebral palsy. However, in some children there is no evidence of a perinatal insult and there may be familial recurrence.1 The London Dysmorphology Database2 offers 104 genetic syndromes that include these features. However, most of them also show dysmorphism and other organ involvement. Twenty-three of these syndromes are the result of an identified inborn error of metabolism. In some genetic syndromes the microcephaly may be progressive and brain neuroimaging may show cortical or cerebellar atrophy.3 Cerebellar atrophy can be associated with spasticity and profound mental retardation in pontocerebellar hypoplasia type 2 (PCH 2).We describe seven patients from six non-consanguineous Sephardi Jewish families with a previously undescribed syndrome of profound mental retardation, progressive microcephaly, and severe spasticity. Radiologically, repeat magnetic resonance imaging showed progressive cerebellar atrophy followed by cerebral atrophy involving both white and grey matter. An extensive metabolic evaluation was normal.Table 1 shows seven patients (five female), identified in two paediatric neurology clinics in Israel, with a similar clinical picture of profound mental retardation, progressive microcephaly, and severe spasticity. All had the same radiological features consistent with progressive cerebellar atrophy and cerebral atrophy involving both white and grey matter.View this table: Table 1 Patient characteristicsFive patients were isolated cases and two were sisters. All families were non-consanguineous Sephardi Jews of either Moroccan or Iraqi origin. All the parents and unaffected sibs were healthy and neurologically intact. Age range was 18 months to 19 years.All patients were the product of a normal pregnancy and delivery. Head circumference was normal at birth. Progressive microcephaly became evident during the first year of life, ranging from 2 to 5 SD below the norm. …" @default.
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• W2133202433 date "2003-08-01" @default.
• W2133202433 modified "2023-09-25" @default.
• W2133202433 title "Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia" @default.
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• W2133202433 doi "https://doi.org/10.1136/jmg.40.8.e96" @default.
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