An unusual association of corpus callosum agenesis in a patient with acromegaly.
نویسندگان
چکیده
DESCRIPTION Midline developmental abnormalities are usually associated with isolated growth hormone deficiency or multiple pituitary hormone deficiencies due to pituitary transcription factor defects.We describe a casewithmidline defects presenting as corpus callosum agenesis and acromegaly. A 39-year-old male presented with congestive cardiac failure with overt clinical features of acromegaly. He was a graduate, was mentally normal and had no visible morphological abnormality. On evaluation, serum growth hormone after 75 g of anhydrous glucose load was non-suppressible (12 μg/l, normal <1 μg/l) and insulin-like growth factor-1 was elevated (900 μg/l, normal 114–49 μg/l). He was hypothyroid, hypocortisolic and hypogonadal and was on replacement therapies. MRI of the head showed a pituitary macroadenoma (2×1.5×1 cm) with left parasellar extension and subacute apoplexy and incidental findings of complete agenesis of corpus callosum (ACC) and right cerebral hemiatrophy (figure 1 and 2). His karyotype was 46, XY with no chromosomal abnormalities. The patient underwent transsphenoidal surgery and was cured. The corpus callosum is a band of white matter structure connecting the cerebral hemispheres medially. It develops from the lamina reuniens in the telencephalon. ACC is an
منابع مشابه
X-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case Report
Background: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder, in which patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. XLAG is responsible for a severe neurological disorder of neonatal onset in boys. A gyration defect con...
متن کاملLarge Sphenoethmoidal Encephalocele Associated with Agenesis of Corpus Callosum and Cleft Palate
Basal encephalocele is a rare craniofacial anomaly. In the present paper we report a 10-year-old boy presented with cleft palate, congenital nystagmus, and hypertelorism. During preoperative evaluation for cleft palate repair, a pulsatile mass was detected in the pharynx. Magnetic resonance imaging showed sphenoethmoidal type of basal encephalocele and agenesis of corpus callosum. Neurosurgical...
متن کاملFiber Tractography and Diffusion Tensor Imaging in Children with Agenesis and Dysgenesis of Corpus Callosum: A Clinico-Radiological Correlation
Background Corpus callosum is the largest commissure in human brain. It consists of tightly packed white matter tracts connecting the two cerebral hemispheres. In this study we aimed to evaluate role of fiber tractography (FT), and diffusion tensor imaging (DTI) in ped...
متن کاملA Patient with Interstitial 5q21 Deletion, Familial Adenomatous Polyposis, Dysmorphic Features, and Profound Neurologic Dysfunction
Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC) gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also...
متن کاملNeurodevelopmental 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 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:
- BMJ case reports
دوره 2010 شماره
صفحات -
تاریخ انتشار 2010