Limb / pelvis hypoplasia / aplasia [Al-Awadi / Raas-Rothschild] syndrome in three new Kuwaiti patients: Clinical and radiological description

This study describes three new patients in 2 Kuwaiti families having AI-Awadi/Raas-Rothschild syndrome. The cases had intercalary and distal limb reduction malformations, hypoplastic pelvic bones [LPAH syndrome] and unusual facial features. Clinical examination, skeletal survey, echocardiography, ultrasonography of head / abdomen, chromosomal study and FISH technique were done. The patients were 2 males and a female, having prenatal and postnatal growth delay. Two cases had capillary hemangiomata, sparse / brown hair, short nose, dysplastic / flabby ears and retrognathia. Symmetric limb reduction defects, phallus and clitoris enlargement have been found. The 1[st] case had balanced, reciprocal translocation, t [1,3][q32:q21], while the 2[nd] and the 3[rd] cases had normal karyotype. Skeletal survey showed variable limb reduction defects in the three cases. The patients share in common the severe pelvic hypoplasia, symmetric limb reduction defects, normal mentality and recessive mode of inheritance. These 3 new Kuwaiti families are added to the previously reported families in Kuwait Medical Genetics Center [KMGC]

Perinatally acquired tuberculosis in a neonate

To report a case of perinatal tuberculosis that appeared on the 21th day of life of an infant born to a mother with latent tuberculosis. Clinical Presentation and Intervention: A preterm male infant was born by spontaneous vertex delivery at 33 weeks gestational age to a 33-year-old primiparous Philippine woman. The infant was well until the 21st day of life when he developed recurrent episodes of cyanosis and bradycardia. A chest radiograph showed infiltrates which were thought to be bacterial in origin. Blood, urine, and cerebrospinal fluid cultures were normal. Tracheal aspirate revealed acid-fast bacilli by Ziehl-Neelsen stain, later confirmed to be Mycobacterium tuberculosis by culture in Lowenstein-Jensen medium. The mother was later diagnosed as a case of tuberculosis with symptoms, signs and radiologic manifestation of hilar lymphadenopathy with mild pleural effusion and positive tuberculin skin test. Both infant and mother were treated with intravenous isoniazid, intravenous rifampicin, oral pyrazinamide, and intravenous pyridoxine. Both recovered. A preterm male infant perinatally acquired tuberculosis, most likely by inhalation of the bacteria during delivery. Both infant and mother responded well to antituberculous treatment