RESUMEN
Chanarin Dorfman syndrome (CDS) is a very rare neutral lipid metabolism disorder with multisystem involvement. It is inherited as an autosomal recessive manner. It is characterized with congenital ichthyosiform erythroderma and involvement of liver, muscle, and central nervous system. Demonstration of lipid vacuoles in neutrophils from peripheral blood smears in patients with ichthyosiform erythroderma leads to the diagnosis. We report a novel ABHD5 truncating variant in a twenty nine month old female child, who presented with icthyosiform erythroderma.
Asunto(s)
1-Acilglicerol-3-Fosfato O-Aciltransferasa/genética , Codón sin Sentido , Eritrodermia Ictiosiforme Congénita/genética , Errores Innatos del Metabolismo Lipídico/genética , Enfermedades Musculares/genética , Preescolar , Femenino , Humanos , Eritrodermia Ictiosiforme Congénita/patología , Errores Innatos del Metabolismo Lipídico/patología , Enfermedades Musculares/patologíaRESUMEN
OBJECTIVE: Analysis of hospitalization data can help elucidate the pattern of morbidity and mortality in any given area. Little data exist on critically ill children admitted to hospitals in the resource-limited nation of Nepal. We sought to characterize the profile, management, and mortality of children admitted to one PICU. DESIGN: Retrospective analysis. SETTING: A newly established PICU in Nepal. PATIENTS: All patients between the ages of 0 to 16 years admitted to the PICU from July 2009 to July 2010. INTERVENTIONS: None. MEASUREMENTS AND RESULTS: In 12 months, 126 children were admitted to the PICU including 43% female patients. Sixty-three percent were under 5 years. Twenty-nine percent came from tertiary care hospitals and 38% from rural areas outside Kathmandu. Only 18% were transported by ambulance. Median distance travelled to be admitted was 30 km (interquartile range, 10-193). Highest number of admissions were in spring (40%) followed by summer (25%). Almost half were admitted for shock (45%), particularly septic shock (30%). The second commonest reason for admission was neurologic etiologies (15%). Neonatal admissions were also significant (19%). Mortality was 26% and was significantly associated with septic shock (p < 0.01), mechanical ventilation (p < 0.01), and multiple organ dysfunction (< 0.05). Almost one third of patients required mechanical ventilation; median duration was 4 days (interquartile range, 2-8). Mean length of stay in the hospital was 6.2 days (± 5.3) and median 4 (interquartile range, 2.5-9.0). Median Pediatric Risk of Mortality II score for nonsurvivors was 12 (interquartile range, 7-21), and median Pediatric Index of Mortality II for nonsurvivors was 10 (interquartile range, 3-32). CONCLUSIONS: Within a short time of opening, the PICU has been seeing significant numbers of critically ill children. Despite adverse conditions and limited resources, survival of 75% is similar to many units in developing nations. Sepsis was the most common reason for PICU admission and mortality.
Asunto(s)
Cuidados Críticos/estadística & datos numéricos , Enfermedad Crítica/mortalidad , Enfermedad Crítica/terapia , Unidades de Cuidado Intensivo Pediátrico/organización & administración , Adolescente , Niño , Preescolar , Femenino , Hospitalización/estadística & datos numéricos , Humanos , Lactante , Recién Nacido , Masculino , Nepal , Respiración Artificial , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
Fifty children (mean age 8 years) with an absolute eosinophil count ranging from 1956 to 28,500 were studied in a tertiary hospital in Nepal. Most had multisystem involvement: 47 had constitutional symptoms; 38 had gastrointestinal symptoms; and 37 had respiratory symptoms. Abdominal pain, fever, cough and weight loss were the most common presentations while pleural effusion, ascites, pericardial effusion, abdominal nodes and high erythrocyte sedimentation rates were the common investigational findings.