Hilal Mocan

Breath holding spells in 91 children and response to treatment with iron

To evaluate the prognosis of breath holding spells (BHS) after iron treatment, 91 children (56 boys, 35 girls) aged between 6 months and 40 months (median, 17) were followed prospectively for a median of 45 months (range, 6–89). In 49 of the children, the frequency of BHS was less than 10 each month, in 22 it was 10–30 each month, and in 20 more than 30 each month. The spells were cyanotic in 60 children. All patients were evaluated initially and during follow up for haematological indices. Electroencephalographic and electrocardiographic abnormalities were also recorded. Sixty three patients were found to have iron deficiency anaemia and were treated with iron (6 mg/kg/day) for three months. Other patients were not given any treatment. After three months, there was a significant difference for correction of cyanotic spells between children who had been treated with iron and those who had not (84.1%v 21.4%). During further follow up, febrile convulsions occurred in 10 children (six were on iron treatment initially). It appears that treating iron deficiency anaemia is effective in reducing the frequency of BHS.

A retrospective analysis of adolescent pregnancies

Pregnancy in adolescence has been and continues to be a problem in public health. A retrospective study of 562 mothers, 18 years of age and below, was carried out. This study has shown a high incidence of preeclampsia (9.9%), low birth weight infants (17.2%), and preterm delivery (9.3%). It is imperative to institute a medical and educational survive with comprehensive prenatal care for adolescent mothers in order to improve the outcome of their pregnancies.

Plasma Soluble Interleukin-2 Receptor Levels in Patients With Idiopathic Thrombocytopenic Purpura

Soluble interleukin‐2 receptor (sIL‐2R) was measured in the plasma of 31 patients with idiopathic thrombocytopenic purpura (ITP) and 22 normal controls. When thrombocytopenia persisted longer than 6 months, the diagnosis of chronic ITP was made. Twenty patients had acute ITP, 11 patients had chronic ITP, and all patients received high‐dose methylprednisolone (HDMP) (30 mg/kg/d for 3 days, 20 mg/kg/d for 4 days). The sIL‐2R levels of the patients were determined before being giving HDMP and 14 days after the end of HDMP therapy. Platelet counts were determined before administration of HDMP, one day after the end of HDMP therapy, and once every 28 days for 7 months thereafter.

Noonan syndrome associated with central giant cell granuloma

We report a case of Noonan syndrome associated with central giant cell granuloma. The patient was a 101/2‐year‐old boy with the chief complaint of proptosis of the right eye. He also had various malformations such as short stature, webbed neck, pectus excavatum, cubitus valgus, pulmonary valve stenosis and patent foramen ovale, a characteristic face appearance and cryptorchidism and so on. Chromosome analysis showed a 46, XY karyotype. A computed tomographic scan and magnetic resonance imaging showed a mass originated from the lateral wall of the right maxillary sinus. The patient underwent Caldwell‐Luc operation. Histological examination of the mass showed the characteristics of central giant cell granuloma. This case report describes a patient with the features of the recently described Noonan‐like/multiple giant cell lesion syndrome.

The role of high dose methylprednisolone and splenectomy in the accelerated phase of Chédiak-Higashi syndrome

The Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disorder. Some cases with CHS develop the accelerated phase characterized by pancytopenia, high fever and lymphohistiocytic infiltration of liver, spleen and lymph nodes. The treatment of the accelerated phase of CHS is difficult. We describe a case with CHS in the accelerated phase who had multiple polyposis and pulmonary infiltration that was probably due to involvement of CHS. She was successfully treated with high-dose methylprednisolone at her first admission. At her second admission, splenectomy was performed to remove hypersplenism, and her clinical, radiological and hematological findings improved significantly.

A rare case of truncal duplication

A rare case of truncal duplication is presented in which the infant had an extra truncus with well-formed extremities, a hypoplastic thorax, and a small abdomen. The truncus was attached to the infant from the thorax to the umbilicus. Successful separation of the truncus and reconstruction of the thoracoabdominal wall defect were performed in the neonatal period.

Another cause of hyponatraemia in patients with bacterial meningitis: cerebral salt wasting

rhamnosus infection in a child following bone marrow transplant was also described (1 0) Further clinical trials are nevertheless required to show the usefulness of probiotics in paediatric infectious diseases. In any case, the use of these agents in immunocompromised populations such as HIV patients requires special attention with regards to safety (1 1 ) In writing this letter we wish to draw attention to concepts proposed 14 years ago which are still relevant and useful in serious illnesses.

A case of Menkes' syndrome associated with deafness and inferior cerebellar vermian hypoplasia

Sir, Menkes’ kinky hair syndrome (MS), first described by Menkes et al. (l), is characterized by major seizures, progressive neurologic deterioration, abnormal hair, hypothermia, deformities of the skeleton, abnormally tortuous arteries and early death. The characteristic feature of MS is a maldistribution of body copper. Decreased copper levels are present in the serum, brain and liver, whereas excess levels are present in gut, kidney and many other non-hepatic tissues. Low concentrations of serum copper and ceruloplasmin in Menkes’ syndrome were reported by Danks et al. in 1972 (2). In this article, we describe a case of Menkes’ syndrome associated with deafness and inferior cerebellar vermian hypoplasia.

A case of Alström syndrome associated with diabetes insipidus

To the Editor: A 16-year-old-male patient was admitted to the Karadeniz Technical University, Faculty of Medicine Hospital with symptoms of obesity and blindness. There was no known consanguinity between his parents. One of his siblings, who was also obese and blind, had died at 3 years of age. Physical examination revealed mild mental retardation, significant obesity (weight: 97.5 kg, 97th centile), hypertension (1601100 mmHg, above the 97th centile) and normal sexual development for chronological age (Fig. 1). The size of the penis was in the normal range for a boy in his age. Ophthalmic examination showed late signs of pigmentary retinopathy, such as bilateral cataract, optic atrophy, vascular attenuation and retinal pigmentary atrophy. Urine analysis demonstrated proteinuria (2+), glucosuria (3+) and hypodensity (1003). Daily urinary output was 2600 cclm2 and creatinine clearance was found to be 73 mumin. Biochemical analyses were in normal ranges, except for hypertryglyceridemia and hyperglycemia. Chromosomal analyses showed a normal male karyotype. The water deprivation test was interpreted as central diabetes insipidus: after DDVAP administration, daily urinary output decreased to 600 ccl m2. The Brain System Auditory Effective Response (BAER) was normal. Echocardiography showed diastolic dysfunction of the left ventricle. There was no response in visual evoked potentials (VEP) with flashing light stimulation of both eyes. The renal ultrasonographic examination showed a mild degree of dilatation of the right renal calices. The normal signal of the posterior hypophysis, which shows ADH deposits, was absent on MRI (Fig. 2). The patient was given therapy with antihypertensive, oral antidiabetic drugs and DDVAP He was followed up with medications when normotensive and euglycemic. Received 2 November 1994, revised version received 22 March, accepted lor publication 19 April 1995

Multiple intracranial hemorrhages at the time of a transiently prolonged activated partial thromboplastin time in an infant with congenital Factor VII deficiency

Factor VII (FVII) deficiency is a rare autosomal recessive hereditary disorder characterized by a normal partial thromboplastin time and a prolonged prothrombin time. For definitive diagnosis, the specific FVII level should be investigated. We report on a 7-month-old boy with congenital FVII deficiency suffering from convulsions and intracerebral hemorrhage. Hematologic tests revealed prolonged prothrombin time associated with a decreased FVII level of 1.7%. Computerized tomography of the brain revealed multifocal hemorrhagic lesions. To our knowledge, multifocal intracranial hemorrhages at the time of a transiently prolonged partial thromboplastin time of unknown origin in a child with congenital FVII deficiency of about 2% has not been reported so far.