Metabolic and genetic disorders mimicking cerebral palsy.

Cerebral palsy is a syndrome that encompasses a large group of childhood movement and posture disorders that result from a lesion occurring in the developing brain. The clinical presentation of many metabolic and genetic conditions, particularly in highly consanguineous populations, can mimic cerebral palsy particularly at early age. The aim of this review article is to identify the clinical features that should alert the physician to the possibility of disorders that resemble cerebral palsy, the clinical and neuroimaging red flags, and highlight some metabolic and genetic conditions which may present with spasticity, ataxia and dyskinesia. In the case of metabolic or genetic disorder, making a precise diagnosis is particularly important for the possibility of treatment, accurate prognosis and genetic counseling.

The incidence and spectrum of central nervous system malformations in newborns over a decade (2001-2010) in the Central Region of Saudi Arabia.

OBJECTIVE: To study the incidence and spectrum of central nervous system (CNS) malformations confirmed by computerized tomography (CT), or magnetic resonance imaging (MRI) in a Saudi newborn population of Riyadh over a 10-year period, and to compare our findings with those in the published literature. METHODS: This is a retrospective analysis of prospectively collected data on all inborn babies admitted to the Neonatal Intensive Care Unit in Riyadh Military Hospital, Riyadh, Kingdom of Saudi Arabia that underwent CT or MRI of the brain and spine from January 2001 to December 2010. Out born babies, babies who sustained birth asphyxia, and premature babies were excluded from the study. RESULTS: During the study period, 849 imaging studies were carried out, and from these 248 babies with CNS malformations were identified. Specific syndromes associated with CNS malformations occurred in 58 (23.4%). Dysraphism was found in 42 babies (16.9%) (25 spinal and 17 cranial). Hydrocephalus was present in 30 (12.1%), cortical malformations occurred in 31 (12.5%), which was dominated by abnormal cell migration in 20. Cerebellar and posterior fossa abnormalities were diagnosed in 44 (17.7%), Dandy-Walker syndrome in 15, and Joubert syndrome in 12. Prosencephalic pathology was seen in 39 (15.7%), commissural abnormalities in 29, while there was holoprosencephaly in 12. Vascular malformations were found in 4 babies (1.4%). CONCLUSION: This study showed a wide spectrum of malformations, with all CNS malformations confirmed by advanced imaging techniques.