Primary hyperparathyroidism is a life-threatening rare disorder. It is seen as a result of neonatal primary hyperparathyroidism, familial hypocalciuric hypercalcemia, increased vitamin D levels and inactivation of calcium sensing receptor mutations. The clinical findings are hypotonia, bone demineralization, hypercalcemia and parathyroid hyperplasia. We present a six-month-old female patient, t...

BACKGROUND Infantile Onset Pompe Disease (IOPD) is a rare autosomal recessive neuromuscular disorder. It is associated with cardiomegaly, hypotonia, paresis, and death in the first year of life. Since 2006, following the use of Alglucosidase alfa as Enzyme Replacement Therapy (ERT), the patients' survival is improved to a noticeable extent. OBJECTIVES The purpose of this study is to examine t...

Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000-10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded...

A 1-year-old child who emigrated from Africa at 8 months of age was admitted for evaluation of failure to thrive (FTT) and hypotonia. Her birth weight was 3.35 kg (46th percentile), and on hospital admission, she weighed 6.2 kg (0 percentile). Her mother had full prenatal care in Africa and was HIV negative in her third trimester. The child was exclusively breast fed until 6 months when she was...

By J. N. (BERRY, M D., M.R.C.P., D.C.H. (From the MediwrlrCollege Hospital, Nagpur, India) Hypotonia in cerebral diplegia is relatively are and when present is often associated with choreo-athetotic movements and is present in the peripheral segments in between tonic spasms. Cases with marked inco-ordination and hypotonia are due to a cerebellar component. Wilson (1940) divides such cases into ...

We report a case of Congenital peri-sylvian syndrome with intractable seizures, hypotonia and feeding problems since birth. MRI brain helped in making an early diagnosis and counselling parents.

A 1-year-old child who emigrated from Africa at 8 months of age was admitted for evaluation of failure to thrive (FTT) and hypotonia. Her birth weight was 3.35 kg (46th percentile), and on hospital admission, she weighed 6.2 kg (0 percentile). Her mother had full prenatal care in Africa and was HIV negative in her third trimester. The child was exclusively breast fed until 6 months when she was...