Late Onset Central Hypoventilation Syndrome associated with Hypothalamic Dysfunction (LO-CHS/HD) is a distinct entity among the clinical and genetic heterogeneous group of patients with late onset central hypoventilation. Here we report a series of 13 patients with LO-CHS/HD. Rapid onset obesity is the first symptom of HD followed by hypoventilation with a mean delay of 18 mos. The outcome remains poor for this group of patients and would benefit from early diagnosis to anticipate ventilation and possible metabolic disorders. Tumor predisposition is more frequent than initially suspected and as high as 40% in this series. These tumors of the sympathetic nervous system (TSNS) are usually differentiated and do not significantly worsen the prognosis. We report a familial case with recurrence in siblings. The cause underlying LO-CHS/HD remains poorly understood although recurrence in siblings argues for a monogenic disorder. We ruled out PHOX2B, ASCL1, and NECDIN as disease-causing genes by direct sequencing in our series of patients and discuss possible disease-causing mechanisms. A genetic basis for C-CHS was postulated because of, i) concordant monozygotic twins; ii) rare cases of recurrence in siblings and vertical transmission; and iii) the association with genetically determined neurocristopathies (i.e. Hirschsprung disease and tumors of the sympathetic nervous system). The screening of genes involved in the developmental cascade of the autonomic nervous system pointed to PHOX2B as the gene underlying C-CHS with an autosomal dominant mode of inheritance and de novo mutations in the first generation (4). We and others subsequently showed that PHOX2B mutations also account for a subset of CHS presenting later in life and named Late-Onset Central Hypoventilation Syndrome (LO-CHS) (5-7). LO-CHS is genetically and clinically heterogeneous and a subset of patients presenting hypothalamic dysfunction (HD) in association with LO-CHS is clearly recognized as a distinct entity (8).Single-case reports of LO-CHS/HD patients, one series and review of the literature have been reported and, thus, far (9 -22) for a total of 30 patients to date. Here we present a series of 13 additional patients with LO-CHS/HD, one being a familial case with recurrence in siblings. This observation strongly argues that LO-CHS/HD is a monogenic condition. In this series, PHOX2B, ASCL1, and NECDIN have been ruled out as disease-causing genes by direct sequencing. PATIENTS AND METHODSThirteen patients with LO-CHS/HD were referred to us between 2000 and 2007 and medical records were reviewed. Inclusion criteria were i) central hypoventilation confirmed by polysomnographic recordings with normal brain MRI and no lung or neuromuscular diseases and ii) at least one other sign of hypothamic dysfunction among the following: rapid-onset obesity due to hyperphagia, hyperprolactinemia, central hypothyroidism, water balance disorder, nonresponse to growth hormone stimulation test, corticotrophin deficiency, or abnormal puberty (precocious or dela...

Objectives: To determine the rate of inappropriate pediatric admissions using the Pediatric Appropriateness Evaluation Protocol (PAEP) and to examine variables associated with inappropriateness of admissions. Subjects and Methods: A prospective study was conducted in the Department of Pediatrics, Farwania General Hospital, Kuwait, to examine successive admissions for appropriateness of admission as well as several sociodemographic characteristics over a 5-month period (August 2010 to December 2010). A total of 1,022 admissions were included. Results: Of the 1,022 admissions, 416 (40.7%) were considered inappropriate. Factors associated with a higher rate of inappropriate admission included older age of patients and self-referral. Conclusion: The rate of inappropriate hospitalization of children was high in Farwania Hospital, Kuwait, probably due to the relatively free health care services, parental preference for hospital care, easy access to hospital services, and insufficient education about the child’s condition.

Non-O:1 Vibrio cholerae infections present clinically mainly as gastroenteritis (67%), septicemia (15%) or wound infection (8%) [1]. Seafood consumption is very common in the week preceding the onset of symptoms [1], but nosocomial infection may also occur [2]. Non-O:1 Vibrio cholerae septicemia is rare, particularly in the paediatric age group [1]. Eight cases of septicemia in children infected with this microorganism have been reported previously in the English-language literature [2,3,4,5,6,7,8,9], and three of them had meningitis as well [4,5,6] (1 had hydrocephalus, 1 had cerebral abscess-like lesions and 1 died). Reported here is an additional case of an infant who developed non-O:1 Vibrio cholerae septicemia with meningitis, cerebral abscess and unilateral hydrocephalus.The infant, male patient was born at 33 weeks gestation to a primigravida after an uneventful pregnancy and delivery, with a birth weight of 2.2 kg. The baby fed well and was discharged at the age of 24 h. At 60 h of age he was admitted to hospital with a 24-h history of poor feeding and recurrent, brief episodes of central and peripheral cyanosis in the preceding 1 h. Vomiting and diarrhea were absent. His weight was 2.01 kg, head circumference 29.5 cm, length 42 cm (all <50 th percentile), heart rate 140/min, respiratory rate 40/min, and temperature 36.3°C. He was observed to be sucking poorly and was hypotonic. The anterior fontanel was normal, and the physical examination was otherwise unremarkable. Blood and urine cultures were collected before ampicillin and cefotaxime were given intravenously (each in a dose of 200 mg/kg/day in 4 divided doses). Twelve hours later the patient had a generalized tonic-clonic convulsion. Intravenous phenobarbitone was instituted and a noncontrast cerebral computerized tomogram (CT) revealed a haematoma in the left frontal lobe with normalsized ventricles.Examination of the cerebrospinal fluid (CSF) revealed the following: total leukocyte count, 1,170/mm 3 (68% polymorphs, 32% lymphocytes); erythrocyte count, 12,150/mm 3 ; glucose level, 70 mg/dl (concomitant serum glucose, 106 mg/dl); protein level, 1,206 mg/dl. The latex agglutination test was negative for Escherichia coli, group B Streptococcus, Streptococcus pneumoniae, Neisseria meningitidis and Haemophilus influenzae. Other investigations revealed the following: a total leukocyte count of 3,000/mm 3 (neutrophils, 40%; lymphocytes, 27%; monocytes, 23%); hemoglobin, 17.7 gm/dl; platelets, 241,000/mm 3 ; erythrocyte sedimentation rate, 2 mm/h; C-reactive protein, 19.5 mg/l (normal range, <8 mg/l); and total serum bilirubin, 11.7 mg/dl (direct 1). Liver and renal biochemical profiles remained normal. Blood culture grew oxidase-positive, gram-negative rods, which were identified biochemically as Vibrio cholerae and serologically as non-O:1 Vibrio cholerae (Central Microbiology Laboratory, Kuwait Ministry of Health). The organism was sensitive to ampicillin, cefotaxime and most of the other major antibiotics. The CSF, stool and urine cultures revealed no...

A 3.5‐y‐old boy of Arabic origin had the clinical features of both type 1 and type 2 fucosidosis, consistent with an intermediate form of the disease. The activity of his leucocyte alpha L‐fucosidase was absent. He presented with recurrent sinopulmonary infection and otitis media in addition to paronychia and a periapical dental abscess. Investigation of his systemic immune function did not reveal a significant underlying defect, but subtle abnormalities, particularly of antibody production and secretory IgA, cannot be excluded. The cranial magnetic resonance images showed periventricular and subcortical white matter abnormalities and mild cortical atrophy in addition to globus pallidus changes.

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