Bukhari (2005) reported an 8-month-old Egyptian girl with Niemann-Pick disease.  She was hospitalized due to an idiopathic nodular panniculitis infection in Saudi Arabia.  She developed high fever reaching 41C, and erythematous yellowish popular skin lesions in her whole body, sparing the face.  She was treated with topical fusidic acid with betamethasone valerate cream; her skin resolved completely after four weeks.

Fensom et al. (1990) (Emirates Med J. 1990; 8:215-9) reported two Iraqi cousins living in the UAE with Niemann-Pick disease Type C (NPC). The first patient was one of female twins. Her parents were first cousins once removed and her twin sister was clinically normal. At five months of age, she had delayed motor development and speech. Hepatosplenomegaly was observed at seven months of age. Liver function tests were within the normal range in the 13 months and the bone marrow showed foamy histiocytes with staining properties not to support NPC. However, the diagnosis of NPC was established by cultured fibroblasts studies. Psychomotor regression was evident by three years leading to death in the sixth year. Cultured fibroblast of the normal twin showed a reduced rate of intracellular esterification of exogenously derived cholesterol. Thus, Fensom et al. (1990) concluded, for the first time, that heterozygous carriers of NPC might be identified by demonstrating a partial defect in their cholesterol metabolism which would be important for consanguineous marriages. Also, it was found that sphingomyelinase assay would not detect heterozygotes. The second patient was a boy and his parents were first cousins. He presented hepatosplenomegaly at two days of age followed by prolonged jaundice for most of the first year. Then, the jaundice disappeared and subsequently he was noticed to have mental handicap. His alkaline phosphate activity was elevated. The diagnosis of NPC was established by cultured skin fibroblast assay.

Fensom et al. (1990) (Emirates Med J. 1990; 8:215-9)  described a Jordanian girl living in the UAE who was diagnosed to have NPC. Her parents were first cousins. She developed severe prolonged jaundice that was considered to be due to biliary atresia and it extended for 11 months. Her three previous brothers had similar jaundice and all brothers died with identical illness between four and 16 weeks of age. Also, she was noted to have hepatosplenomegaly since she was born. Serum activities of transaminases and alkaline phosphatase were elevated. At 11 months, she had delay motor development. When she was three years old, she had ataxic gait, weakness, hypotonia of the lower limbs, and a small hernia of the linea alba. A bone marrow aspirate revealed abnormal vacuolated macrophages. Liver biopsy showed fibrosis, moderate giant cell transformation, and large deposits of abnormal storage material in Kupffer cells and hepatocytes. Skin fibroblast studies were the reliable diagnostic method of NPC.

[See: Egypt > Bukhari, 2005].

Moammar et al. (2010) reviewed all patients diagnosed with inborn errors of metabolism (IEM) from1983 to 2008 at Saudi Aramco medical facilities in the Eastern province of Saudi Arabia. During the study period, 165530 Saudi infants were born, of whom a total of 248 newborns were diagnosed with 55 IEM. Affected patients were evaluated based on clinical manifestations or family history of similar illness and/or unexplained neonatal deaths. Almost all patients were born to consanguineous parents. Lysosomal storage disorders were the most diagnosed category of IEM in this cohort (74 out of 248 cases, 30%). Among them, 2 cases from 2 families were found to have Neimann-Pick type C, with an estimated incidence of 1 per 100,000 live births. All cases of Neimann-pick were diagnosed by conventional filipin staining and the lack of cholesterol esterification in skin fibroblasts of the patients. The authors concluded that data obtained from this study underestimate the true figures of various IEM in the region. Therefore, there is an urgent need for centralized newborn screening program that utilizes tandem mass spectrometry, and offers genetic counseling for these families.