Microcephalic osteodysplastic primordial dwarfism [MOPD] type I with severe anemia and MRI brain findings of MOPD type II

We report a 4 month old male, 4th in order of birth of healthy consanguineous Egyptian parents with typical characteristics of microcephalic osteodysplastic primordial dwarfism most probably belongs to type I [MOPD I]. The patient had intrauterine growth retardation, sparse scalp hair, sparse eyebrows and eyelashes, high arched palate, micrognathia, low set ears, short neck, clenched fists, groove between thumb and palm of hand, arachnodactyly, flexion contractures of elbow and knee. He also had thin dry skin with marked decreased subcutaneous fat and prominent superficial veins over chest and abdomen and mild hypertrichosis over lower back and buttocks. However, the patient had severe anemia and MRI brain findings revealed global hypovolemic brain changes in the form of dilated ventricles and widened cortical sulci, multiple old vascular insults and aneurismal dilatation of right internal carotid artery [ICA] which are consistent with MOPD II

Familial Peters Plus syndrome with absent anal canal, sacral agenesis and sensorineural hearing loss: expanding the clinical spectrum

Peters anomaly is a rare form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs involving the central or entire cornea. It may be associated with other ocular or systemic abnormalities. Peters Plus syndrome, also known as Krause-Kivlin syndrome, characterized by additional anomalies including short stature with developmental delay, facial dysmorphism, genitourinary abnormalities; syndactyly; brachycephaly; and cardiac, neural, and hearing abnormalities. Here we report an 8 month old boy with typical features of Peters Plus syndrome including eye anomalies, dysmorphic features, global developmental delay, growth retardation, bilateral talipes equinovarus, complex renal anomalies, absent anal canal, sacral agenesis and sensorineural hearing loss. To our knowledge, the last three features were not reported before

New methodology in newborn screening for cystic fibrosis in Egypt

We used a three-tier neonatal screening method for cystic fibrosis disease. A total of 924 newborns, 458 males and 466 females, were screened by taking a heel prick on Guthrie cards during the first, three days after labour. The studied newborns were divided into two groups: Group I included forty high risk neonates and Group II included 884 randomized full term neonates. For all 942 newborns immunoreactive trypsinogen [IRT] was determined in neonatal blood spot. Forty positive cases [IRT equal to or higher than 60 ng/mL] were confirmed by sweat electrolyte testing. It was positive [equal to or higher than 50 mEq/L] in only three cases. DNA analysis using ARMS-PCR amplification technique for detection of F508 mutation was done to the three positive infants. One did not show the F508 mutation on both allels. The other two carried the F508 mutation on one allele. All three cases were recalled to exclude CF disease

Gaucher disease with pulmonary, cardiac and renal involvement: improvement on fractionation of Cerezyme dose

We report the improvement of extensive pulmonary infiltration and lung symptoms in 2 8/12 years old boy with Gaucher disease on fractionation of a high dose of Cerezyme every three days. We also report the unusual finding of concentric left ventricular hypertrophy and multiple right kidney stones in this patient