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...

Abstract Introduction Primary central sleep apnea of infancy tends to improve over weeks with supportive care. No established treatments exist; however, infants this condition remain at risk from sequelae intermittent hypoxemia. We present a term infant primary treated caffeine citrate resulting in clinical and polysomnographic improvement. Report Cases: A 7-day-old male born 37 gestation (gest...

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 ...

Case presentation: In a referral hospital for rare diseases in Belo Horizonte, Minas Gerais, we followed up five patients with molecular diagnosis of mitochondriopathies. A.E.S.V, 3 years and 11 months, diagnosed Leigh Syndrome due to homozygous point mutation the NDUFAF5 gene, presented delayed onset neuropsychomotor development associated central characteristic hypotonia, difficult-to-control...

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...

X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagnosis is based on typical histopathological findings on muscle biopsy, combined with suggestive cl...