Partial agenesis of corpus callosum in Sanjad-Sakati syndrome (p-ACC).
نویسندگان
چکیده
middleeast in children of consanguineous parents1. it is a rare autosomal recessive disorder known also as middle-east syndrome or Richadson-Kirk syndrome or hypoparathyroidism -retardation-dysmorphism (HRd) syndrome2. Children afflicted with this condition are born with intrauterine growth retardation, and present with hypocalcemic tetany or seizures due to hypoparathyroidism at an early stage in their lives3. in this paper we report , for the first time, the presence of partial agenesis of corpus callosum in SSS.
منابع مشابه
Neurodevelopmental Outcome of Patients With Agenesis of Corpus Callosum
Background: Agenesis of Corpus Callosum (ACC) is a type of brain dysgenesis with various clinical manifestations. Objectives: This study aimed to investigate the clinical and neurodevelopmental outcomes of patients with ACC. Materials & Methods: In this cross-sectional study, the clinical and neurodevelopmental conditions of 62 patients with complete ACC referred to subspecialty clinics of pe...
متن کاملNeurological manifestations in children with Sanjad–Sakati syndrome
BACKGROUND Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism-mental retardation-dysmorphism syndrome, or HRD, is a rare disorder characterized by growth and developmental delay, and by mental retardation and dysmorphic features. OBJECTIVE The objective of this study was to clarify the clinical and neurological features of SSS. PATIENTS Twenty-four patients were included in the ...
متن کاملGelastic epilepsy in combination with hypothalamic hamartoma and partial agenesis of the corpus callosum: A case report and review of the literature
Gelastic epilepsy has been reported to originate from various conditions, particularly from hypothalamic hamartoma (HH). In the present study, we report a patient with gelastic seizures (GSs), followed by complex partial and tonic-clonic seizures. Magnetic resonance imaging (MRI) revealed a rare combination of HH and partial agenesis of the corpus callosum (ACC). Following resectioning of the H...
متن کاملPartial agenesis of the corpus callosum in a patient with juvenile myoclonic epilepsy.
We describe a patient who presented at our epilepsy-monitoring unit with myoclonic jerks, and was diagnosed with juvenile myoclonic epilepsy (JME). Imaging of his brain revealed partial agenesis of the corpus callosum (ACC). We discuss the known genetic basis of both JME and ACC, as well as the role of the corpus callosum (CC) in primary generalized epilepsy. Both JME and ACC are associated wit...
متن کاملClinical commentary Partial agenesis of the corpus callosum in a patient with juvenile myoclonic epilepsy
We describe a patient who presented at our epilepsy-monitoring unit with myoclonic jerks, and was diagnosed with juvenile myoclonic epilepsy (JME). Imaging of his brain revealed partial agenesis of the corpus callosum (ACC). We discuss the known genetic basis of both JME and ACC, as well as the role of the corpus callosum (CC) in primary generalized epilepsy. Both JME and ACC are associated wit...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
دوره 39 6 شماره
صفحات -
تاریخ انتشار 2012