Bone density values in healthy Turkish infants.

OBJECTIVE: To determine values of bone density of Turkish infants under one year of age. DESIGN: Cross sectional. METHODS: This study included 1, 2, 4, 6, 9 and 12 months old 164 male and female healthy infants who were evaluated by dual energy X-ray absorbtiometry. RESULTS: The values for each age were computed. There was no significant difference between boys and girls. A significant relationship was found between bone mineral density, bone mineral content, total body calcium and calcium/body surface, and age, height, body weight, head circumference and body surface area. Multiple regression analysis showed that body mineral density was affected by weight, height, head circumference and body mass index. Body mineral content and total calcium content were affected by weight and height. CONCLUSION: The results will serve as reference values for healthy 1-12 months old Turkish infants.

Meckel-Gruber syndrome.

Meckel-Gruber syndrome is a congenital disorder characterized by occipital encephalocele, polydactyly and polycystic kidneys. This rare syndrome has been reported in the literature as incompatible with life. We present the case of a newborn afflicted with the clinical triad of Meckel-Gruber syndrome. Appropriate treatment instituted in our case led to a good early outcome.

Hypoglossia-hypodactylia (Hanhart's) syndrome with sensorineural hearing loss.

Hanhart's syndrome, an uncommon disorder characterized by severe micrognathia, hypoglossia and absence of the extremities, belongs to the oromandibular-limb hypogenesis group of diseases. Our patient was admitted with the complaints of abnormality of the mouth and absence of the upper extremities. Physical examination revealed severe micrognathia, a small tongue adhered to the base of the mouth, absence of bone, muscle and skin tissue at the lower edge of the right humerus and at the middle zone of the left ulna and radius. According to these findings, the diagnosis of hypoglossia-hypodactylia (Hanhart's) syndrome was made. At the age of 1 1/2 years, tympanometric examination revealed conductive hearing loss due to dysfunction of the eustachian tube. Auditory brainstem responses also revealed bilateral severe sensorineural hearing loss. A literature search revealed two cases of Hanhart's syndrome with conductive hearing loss, but no report of sensorineural hearing loss as part of this entity. Therefore, we present this case of Hanhart's syndrome with severe sensorineural hearing loss.

Prognostic factors in meningococcal disease and a new scoring system.

One-hundred-and-forty patients diagnosed as having meningococcal disease have been investigated retrospectively with respect to prognostic factors. The overall mortality was 8.6%, the mortality rate of the infants under 6 months of age being higher than that of the other groups. In cases where there was no meningitis or leucocytosis, the presence of hypotension, disturbed consciousness and diffuse petechiae increased the mortality rate significantly. High fever did not have any effect on mortality. We propose a new practical and reliable scoring system for meningococcal disease for determining the influence of prognostic factors on mortality.

The role of high-dose intravenous methylprednisolone in the treatment of varicella associated thrombocytopenic purpura.

Two children with varicella associated thrombocytopenia are presented. Case 1, evidencing no mucosal or parenchymal bleeding was administered prednisone 2 mg/kg/day therapy after having been put under observation for a period of one week without medical treatment. There was an increase in the platelet count during the period of therapy culminating in a return to normal on the eighth day. Case 2, who was in poor clinical condition at presentation, was treated with high-dose intravenous methylprednisolone (HIVMP) 30 mg/kg/day, resulting in the platelet count returning to a normal level (180,000/mm3) on the second day of therapy. HIVMP therapy is recommended in the treatment of life-threatening cases of thrombocytopenia because of its rapid action, limited side-effects, and its low cost.

An unknown syndrome of nose deformity, oxycephaly, aplasia of the nasolacrimal ducts, and symmetrical cyst formation on the upper lip in siblings: craniorhiny.

An unknown syndrome of oxycephaly, nose deformity, hair growth on the skin at the base of the nose, symmetrical cyst formation on the upper lip, and aplasia of the nasolacrimal ducts in a mother and her three children is presented. This syndrome showed autosomal dominant inheritance. All three children were operated on. Oxycephaly and lip deformity in two of the children and hypertelorism that existed in addition to the other anomalies in the third were all corrected. All corrective surgery was performed during a single session for each child.