Lambdoid Suture Defect in a 12-year-old Neurofibromatosis Patient.

Neurofibromatosis type 1 (NF-1) is the most common neurocutaneous syndrome. It is inherited in an autosomal dominant manner, with many patients having the syndrome as the result of a de novo mutation. NF-1 is caused by a mutation in the NF-1 gene located on the chromosome 17q11.2. NF-1 gene mutations result in the absence or reduced function of neurofibromin protein, thereby promoting tumor development and other clinical findings. NF-1 is fully penetrant, and it is commonly manifested by café-au-lait macules, axillary and/or inguinal freckling, neurofibromas, and Lisch nodules in the eyes. Skeletal manifestations include scoliosis, short stature, long bone dysplasia, and pseudoarthrosis. Rarely, NF-1 can manifest lambdoid suture defects. This report describes the case of a 12-year-old neurofibromatosis patient who presented to the pediatric clinic with a palpable posterior scalp defect, as well as café-au-lait macules and Lisch nodules. Diagnosis of NF-1 was made clinically. MRI and CT scan were done, and the patient was diagnosed with a lambdoid suture defect that is not associated with plexiform neurofibroma. Moreover, whole exome sequence (WES) was done, and diagnosis of NF-1 was confirmed. Watchful waiting and continuous monitoring were the management of choice for this case.

Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients.

Through a survey of more than 20 patients with a specific subgroup of autosomal recessive congenital cutis laxa (ARCL), namely ATP6V0A2-related cutis laxa, we noted that the clinical findings on three patients included pretibial pseudo-ecchymotic skin lesions very similar to those found in classical Ehlers-Danlos syndrome. The finding is apparently age-related, occurring during the second decade in two of the three patients.

Neonatal screening for congenital hypothyroidism: a retrospective hospital based study from Bahrain.

BACKGROUND: Neonatal screening programs for congenital hypothyroidism (CH) are now widespread in developed countries. AIM: Cord blood thyroid-stimulating hormone (TSH) was evaluated for the incidence of CH in Bahrain Defense Force hospital. METHODS: Those neonates with cord blood TSH values >25 mU/l were recalled. Permanent CH was reported when the levels of TSH and free T4 (fT4) venous blood samples were > or =15 mUl and <12 pmol/l, respectively, with abnormal thyroid scan. RESULTS: Of 714 recalled newborns, 23 (10 males and 13 females) were diagnosed with transient TSH elevation with an estimated incidence of 1:774 births and 6 (3 males and 3 females) were diagnosed with permanent CH with an overall estimated incidence of 1:2,967 births. CONCLUSIONS: High incidence rates for CH reported in this hospital-based study suggest the need for a national screening program for this congenital endocrine disorder in the Kingdom of Bahrain.

Pattern of upper respiratory tract infections and physicians' antibiotic prescribing practices in Bahrain.

OBJECTIVE: To evaluate the pattern of antibiotic prescriptions for paediatric upper respiratory tract infections (URTI) and determine the associated predictors for such antibiotic use in the Kingdom of Bahrain. SUBJECTS AND METHODS: From March 2005 to March 2006, demographic data, clinical presentation, investigations and antibiotic prescription for children with URTI (n = 184) at the Bahrain Defence Force Hospital was recorded. To assess the factors which influence physician antibiotic prescription for URTI, a cross-sectional survey of doctors was carried out using a pre-tested questionnaire which was administered to paediatricians, general practitioners and emergency room physicians. RESULTS: Antibiotics were given to 95 of the 184 (51.6%) patients, mainly children <3 years (40/95). Significant association was demonstrated for antibiotic prescription, age and diagnosis of tonsillitis or acute otitis media (p < 0.05). Amoxicillin (37/95) was the most frequently prescribed antibiotic, followed by beta-lactam/beta-lactamase combination and second-generation cephalosporins. Fever, younger age, sore throat and presence of earache increased the likelihood of antibiotic prescription. Data from the cross-sectional survey of doctors revealed that lack of national guidelines, parental pressure and diagnostic uncertainty contributed to antibiotic overuse. CONCLUSION: Antibiotic overuse for the treatment of paediatric URTI remains a problem in our setting. We suggest the development of national guidelines which are integrated with structured continuing medical education courses, public awareness campaigns and the introduction of rapid streptococcal antigen tests in the outpatient clinic.