Louri et al. (2009) described for the first time a case of association of Niemann-Pick disease with syringocystadenoma papilliferum. The patient was a 9-year old boy, in whom a solitary tumor was seen.

Raddadi and Al Twaim (2000) described the case of a 3-year old Saudi boy born to consanguineous parents diagnosed with Neimann-Pick Disease. The patient presented with abdominal distension, weight loss and repeated attacks of chest infections. He had developed a skin rash at 1-year of age, and showed progressive deterioration in attaining his developmental milestones. Upon examination, the child looked sick and emaciated, with a distended abdomen with hepatosplenomegaly, along with lymphadenopathy, muscle wasting, and lack of tone. Papulonodular rashes were present all over the face, neck, trunk, axillae, groin, and buttocks. Both eyes had cherry-red spots. The examination raised the suspicion of Niemann Pick Disease. Laboratory results showed mild hepatic dysfunction, and elevated serum triglyceride levels. Bone marrow aspirate showed foamy vacuolated cells, while the skin nodule was found to have a collection of foamy histocytes and occasional lymphocytes, with small nuclei and vacuolated cytoplasm. The patient was diagnosed with Type A NPD. He did not come for follow-up, and died 3-months later.

Moammar et al. (2010) reviewed all patients diagnosed with inborn errors of metabolism (IEM) from 1983 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, 8 cases from 6 families were found to have Neimann-Pick type A, with an estimated incidence of 5 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.