Case presentation: 9-year-old female, born at term by vaginal delivery without complications. Referred to the neurologist due learning difficulties and gait imbalance. She was with mild hypotonia, presenting difficulty in breastfeeding, but did not need any ventilatory support. diagnosed congenital clubfoot which successfully treated until age of 2 years 4 months. Extended screening for inborn ...

Case presentation: A male infant, cesarean term delivery. His mother had an unremarkable pregnancy. Apgar score of 8/10 and weight 2,945 g. Newborn screening tests were normal. At 8 days age, he presented with episodes impaired awareness, unresponsiveness clonus the limbs, lasting for up to one minute. Phenobarbital was initiated, attaining full seizure control. 6 months developed dystonia chor...

The floppy infant syndrome is a well-recognized entity for pediatricians and neonatologists. The condition refers to an infant with generalized hypotonia presenting at birth or in early life. The diagnostic work up in many instances is often complex, and requires multidisciplinary assessment. Advances in genetics and neurosciences have lead to recognition of newer diagnostic entities (several c...

Cytogenetic and FISH analysis was performed in 139 patients to detect the pathognomonic of Di George/ Velocardiofacial syndrome (DGS/VFCS) deletion 22q11.2. An abnormal karyotype was revealed in 2/139 cases (47, XXY and 46, XX, 2p+). A deletion was found in 17/139 (12.2%) patients (14 males/ 3 females), inherited in 3 (2 maternal and 1 paternal). Patients with 22q11.2 deletion exhibited facial ...

We report the first known ethnic Malay patient with laminin alpha-2 (merosin) deficiency (MDC1A), a subtype of congenital muscular dystrophy (CMD)as a result of novel LAMA2 gene mutations. The 21-month-old female presented with hypotonia at birth and gross motor delay of her distal lower limbs. Physical examination showed generalised hypotonia, hyporeflexia and myopathic facies but good cogniti...

We report a family with an undiagnosed X linked condition. The grandmother, two of her three daughters, and one of her grand-daughters have a slowly progressive proximal weakness, brisk reflexes, poor bladder function, static reduced night vision, and IgG2 deficiency. The diagnosis of the three living symptomatic females was "hereditary spastic paraplegia plus". They have lost five male childre...