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INTRODUCTION: Adrenocortical tumors (ACT) are rare tumors of childhood. The majority of these tumors is hormone-producing and cause virilization and Cushing syndrome or feminization. METHODOLOGY: The authors describe 6 cases of adrenal cortical tumors treated at the Kuwait Cancer Center which were presented over a period of 20 years (1989-2009). RESULTS: The mean age was 5.5 years (range 15 months - 12 years). All had signs of virilization. One child had hypertension, while 2 had a metastatic disease at presentation. The diagnosis was made by clinical signs and symptoms, high levels of relevant adrenal hormones and imaging. Two children were not fit for surgery; one was too sick for any treatment and died shortly after diagnosis, while the other died after receiving one cycle of palliative chemotherapy. Four patients underwent complete surgical resection and achieved complete remission, three of whom later had recurrence (distant in one and local in two patients) and succumbed due to progressive disease. Mitotane was used in two children. Only one patient is currently surviving and well nearly 13 years after her surgery. In our series, the long-term outcome of children with adrenocortical tumors was very poor. CONCLUSIONS: Virilization is an important clue to the diagnosis of ACT. Early diagnosis and complete surgical resection are important for survival. Metastasis at presentation or as recurrence carries very dismal prognosis.
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Neoplasias de la Corteza Suprarrenal/terapia , Neoplasias de la Corteza Suprarrenal/diagnóstico , Neoplasias de la Corteza Suprarrenal/epidemiología , Niño , Preescolar , Femenino , Marcadores Genéticos , Humanos , Incidencia , Lactante , Masculino , PronósticoRESUMEN
Pyruvate dehydrogenase deficiency is an important cause of primary lactic acidosis. Most cases occur as a result of mutations in the gene for the E1 alpha subunit of the complex, with a small number resulting from mutations in genes for other components, most commonly the E3 and E3-binding protein subunits. We describe pyruvate dehydrogenase E3-binding protein deficiency in two siblings in each of two unrelated families from Kuwait. The index patient in each family had reduced pyruvate dehydrogenase activity in cultured fibroblasts and no detectable immunoreactive E3-binding protein. Both were homozygous for nonsense mutations in the E3-binding protein gene, one involving the codon for glutamine 266, the other the codon for tryptophan 5.
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Acidosis Láctica/enzimología , Péptidos/deficiencia , Secuencia de Bases , Células Cultivadas , Codón/genética , Codón sin Sentido , Consanguinidad , ADN Complementario/química , Femenino , Fibroblastos/enzimología , Glutamina/genética , Homocigoto , Humanos , Lactante , Recién Nacido , Kuwait , Imagen por Resonancia Magnética , Péptidos/genética , Complejo Piruvato Deshidrogenasa/genética , Siria/etnología , Triptófano/genéticaRESUMEN
We report nine Bedouin children from Kuwait with persistent hyperinsulinaemic hypoglycaemia (PHHI) seen over a 13-year period in two regional hospitals. The incidence of PHHI in this inbred community is high (1:20,000); five of them came from two families. All the children presented with seizures associated with severe and recurrent hypoglycaemia, eight presenting in the neonatal period and one at the age of 2 months. One child died soon after birth. All the others received diazoxide initially, which achieved remission in one while two siblings remain dependent on the drug. Long-acting somatostatin analogue (octreotide) was successfully used in one child. Four children underwent pancreatectomy, two showed diffuse and two had localized nesidioblastosis. Two children achieved normal neurodevelopmental milestones, four suffered mental retardation of varying degrees and three died. Early diagnosis and prompt treatment are essential to avoid the neurological damage associated with hypoglycaemia. In some cases, this condition is due to an autosomal recessive pattern of inheritance and it is therefore important to offer genetic counselling to families with one or more affected siblings.
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Hiperinsulinismo/epidemiología , Hipoglucemia/epidemiología , Enfermedades Pancreáticas/epidemiología , Árabes , Desarrollo Infantil , Femenino , Estudios de Seguimiento , Humanos , Hiperinsulinismo/genética , Hiperinsulinismo/terapia , Hipoglucemia/genética , Hipoglucemia/terapia , Lactante , Recién Nacido , Kuwait/epidemiología , Masculino , Enfermedades Pancreáticas/genética , Enfermedades Pancreáticas/terapia , Pronóstico , Resultado del TratamientoRESUMEN
We report four sibs with Kenny-Caffey syndrome in a consanguineous Bedouin family. The first two died in the neonatal period while the remaining affected brother and sister had all the characteristic clinical, biochemical, and radiological abnormalities of the syndrome. These included severe pre- and postnatal growth retardation, cortical thickening of the tubular bones with medullary stenosis, eye abnormalities, facial dysmorphism, hypocalcaemia, and low levels of parathyroid hormone. The children also showed intracranial calcification, impaired neutrophil phagocytosis, increased proportion of B lymphocytes, reduced CD4 and CD8 subpopulations of T lymphocytes, and inhibited transformation in response to Candida antigen. Fluorescence in situ hybridisation (FISH) was applied to blood lymphocyte metaphase spreads from these two Bedouin sibs and their parents using probe D22S75 (Oncor), specific for the DiGeorge critical region on chromosome 22q11.2. The presence of 22q11.2 haploinsufficiency was identified in the affected sibs, which was transmitted from the phenotypically normal mother. The present report widens the spectrum of CATCH 22 microdeletion to accommodate Kenny-Caffey syndrome.
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Anomalías Múltiples/genética , Aberraciones Cromosómicas/genética , Deleción Cromosómica , Cromosomas Humanos Par 22/genética , Anomalías Musculoesqueléticas/genética , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/fisiopatología , Árabes , Niño , Aberraciones Cromosómicas/diagnóstico por imagen , Aberraciones Cromosómicas/fisiopatología , Trastornos de los Cromosomas , Anomalías del Ojo/genética , Femenino , Trastornos del Crecimiento/diagnóstico por imagen , Trastornos del Crecimiento/genética , Haplotipos , Humanos , Recién Nacido , Masculino , Anomalías Musculoesqueléticas/diagnóstico por imagen , Núcleo Familiar , Radiografía , SíndromeRESUMEN
Fifty children (37 females and 13 males) with first febrile urinary tract infections were studied to assess the value of 99MTc-dimercaptosuccinic acid (DMSA) scan in detecting inflammatory changes of acute pyelonephritis (APN). These findings were compared with renal ultrasonography (US). We also evaluated the reliability of clinical and laboratory observations in diagnosing acute pyelonephritis (APN). All children had micturating cystourethrography (MCUG). DMSA-documented acute pyelonephritis was present in 29 (58%) patients. Only four children (8%) demonstrated changes suggestive of APN on renal ultrasonography. Vesicoureteric reflux (VUR) was documented in 17 (47%) of the total group and in 13 (45%) of those with abnormal DMSA scan. Follow-up DMSA scan in 15 children with initial abnormal findings showed complete recovery in seven (47%). Our data have shown that DMSA renal scan is the most useful investigational procedure in children with febrile UTI. The diagnosis of APN, depending on clinical and laboratory data, is unreliable. Renal US alone can miss serious renal defects. MCUG remains the most sensitive procedure to detect VUR and it should be performed in all children with UTI and abbormal DMSA scan. Early detection of acute pyelonephritis allows the prompt introduction of antimicrobial agents in those children and can prevent or decrease renal damage and its complications.
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Laron dwarfism is a rare inherited form of short stature. Most cases reported have been in people of Mediterranean origin, particularly Oriental Jews. We describe the first sibship in an Arab Muslim family from Kuwait in the Arabian Gulf. This type of growth hormone insensitivity is caused by defects in the growth hormone receptor gene. The recently available recombinant human insulin-like growth factor I has shown promise as a promoter of growth in children with Laron syndrome.