Back Ground: Tyrosine hydroxylase deficiency (THD) is the rare cause of recessive dopa-responsive dystonia (DRD) in analogy to dominantly inherited guanosine tri phosphate cyclohydrolase 1(GCH 1) deficiency. It always has good response to L-dopa, but it is easily misdiagnosed or missed diagnosed because PDF
A 6 month old female patient was referred to Diabetes, Endocrine and Metabolism Pediatric Unit (DEMPU) in the Children's hospital, Cairo University because of high grade fever, dehydration, recurrent chest infection, purpuric rash over the abdomen, and failure to thrive from the first day of her life. The patient has history of multiple hospital admissions. Investigations PDF
Deafness may be classified in: conductive, sensor neural, mixed, and central type. The degree of severity is divided in: low, moderate, severe and profound. Among other causes, genetic syndromes are responsible for hearing loss in an important number of cases. PDF
Congenital midline sternal cleft is a rare anomaly, and can be recognized at birth due to the typical appearance as a sternal depression covered with atrophic skin with a median abdominal raphe extending down to the umbilicus. Such infants should also be examined for lesions in the brain, heart, and eyes as sternal clefts are usually described as part of PHACE Syndrome PDF