Brain morphometry in Pontocerebellar Hypoplasia type 2
نویسندگان
چکیده
منابع مشابه
Brain morphometry in Pontocerebellar Hypoplasia type 2
BACKGROUND Pontocerebellar hypoplasia type 2 (PCH2) is caused by a defect in the TSEN54-gene and leads to severe and early disruption of brain development, especially of cerebellum and pons. The aim of this work was to quantify the infra- and supratentorial brain growth during postnatal brain development in children with PCH2. METHODS MRI data of 24 children with PCH2 (age 0.02-17 years., 13 ...
متن کاملNatural course of pontocerebellar hypoplasia type 2A
INTRODUCTION Pontocerebellar hypoplasia Type 2 (PCH2) is a rare autosomal recessive condition, defined on MRI by a small cerebellum and ventral pons. Clinical features are severe developmental delay, microcephaly and dyskinesia.Ninety percent carry a p.A307S mutation in the TSEN54-gene. Our aim was to describe the natural course including neurological and developmental features and other aspect...
متن کاملMacrocephaly in association with pontocerebellar hypoplasia type 1: a paradox.
The present case describes a patient with one and a half syndrome due to pontine granuloma (neurocysticercosis). In one and a half syndrome, the lesion affects the paramedian pontine reticular formation (PPRF) (or the abducens nucleus) and the medial longitudinal fasciculus (MLF) on the same side (the MLF having crossed from the opposite side). It is most often caused by multiple sclerosis, bra...
متن کاملLoss of PCLO function underlies pontocerebellar hypoplasia type III.
OBJECTIVE To identify the genetic cause of pontocerebellar hypoplasia type III (PCH3). METHODS We studied the original reported pedigree of PCH3 and performed genetic analysis including genome-wide single nucleotide polymorphism genotyping, linkage analysis, whole-exome sequencing, and Sanger sequencing. Human fetal brain RNA sequencing data were then analyzed for the identified candidate gen...
متن کاملPontocerebellar Hypoplasia Type 1 with Ohtahara Syndrome: A Case Report
A 5 day old male newborn delivered at 40 weeks gestation by emergency C-section due to fetal distress with Apgar scores of 5 and 6, at 1 and 5 minutes respectively, was noted to be hypotonic at birth with joint contractures. He required resuscitation and endotracheal intubation due to apnea at birth. On day 4 of life he developed tonic seizures and was treated with the anticonvulsant, phenobarb...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2016
ISSN: 1750-1172
DOI: 10.1186/s13023-016-0481-4