Tuber Cinereum Diverticula in a 28-Month-Old with Xq21 Deletion Syndrome
نویسندگان
چکیده
A developmentally delayed 28-month-old male toddler was referred to us for brain MRI. Imaging revealed corpus callosum dysgenesis, forniceal hypoplasia, vermian hypoplasia, and hypothalamic dysmorphism characterized by tuber cinereum diverticula. Subsequent chromosomal microarray showed an Xq21 deletion. We present a case of Xq21 deletion syndrome with midline brain anomalies and a novel hypothalamic malformation.
منابع مشابه
Hypothalamic hamartoma in a dog.
A 10-month-old female, Wire-haired Pointing Griffon dog had a hamartoma of the hypothalamus. Episodes of sudden flaccid collapse had increased in frequency and duration for 7 months. Cerebrospinal fluid pressure was normal. A flat, pedunculated mass, 2.5 X 3.0 X 0.9 cm, covered the brain stem between the pituitary gland and pons. Its 1.2-cm-diameter connection to the hypothalamus obliterated th...
متن کاملIntracranial reticulum cell sarcoma associated with immunoglobulin A deficiency.
A case is reported of a 46 year old woman who died after a five month illness characterized by focal neurological signs, evidence of meningeal irritation, and the finding of `blast' cells in the CSF. Immunoglobulin A was consistently absent from her serum and secretions. Necropsy showed extensive infiltration by a reticulum-cell sarcoma of the subarachnoid space, with tumour nodules on several ...
متن کاملHypothalamic hamartoma.
To cite: Grech R, Looby S, Thornton J, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2012008273 DESCRIPTION A 9-year-old girl presented with an 8-month history of gelastic seizures and precocious puberty. Clinical evaluation including full neurological assessment was otherwise unremarkable. Endocrine tests were normal and there was no family or surgical h...
متن کاملMRI Evaluation of the Brain in Children with Attention Deficit and Hyperactivity Disorder; How to Hear the Whispers Early?
Background Attention deficit and hyperactivity disorder (ADHD) is a disorder of the brain characterized by periods of inattention, hyperactivity and impulsive behavior. We aimed to evaluate the role of MRI of the brain in children with ADHD. Materials and Methods This prospective study included 100 children with clinical diagnosis of attention deficit and hyperactivity disorder according to the...
متن کاملWhen Baby’s giggles are not funny: seven years overlooked diagnosis in a case of gelastic seizures
L aughter actually has positive emotional effect. However, it could be pathologic when laughter is not related to emotion and occurs independent of a stimulus in the environment. We reported a 7-year-6-month old Thai boy who presented with ‘early giggles’ since the age of 2 months. Despite parental concerns, the symptoms were overlooked until seven years of age, when he developed complex partia...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
دوره 2014 شماره
صفحات -
تاریخ انتشار 2014