Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease.

Mevalonate kinase deficiency should be considered in patients with severe very-early-onset inflammatory bowel disease (IBD), especially in patients with a history of recurrent or chronic fever, peritoneal adhesions, and atypical IBD pathology. Anti-interleukin-1 therapy may be efficacious in these patients with monogenic very-early-onset IBD.

Hipercalcemia grave como forma de apresentação de leucemia linfoblástica aguda em crianças / Severe hypercalcemia as a form of acute lymphoblastic leukemia presentation in children

RESUMO A hipercalcemia é um distúrbio metabólico raro em pediatria, potencialmente fatal, apresentando um vasto diagnóstico diferencial, incluindo neoplasias. Relatamos aqui o caso de uma criança de 3 anos, previamente saudável, admitida no serviço de urgência por fadiga, hiporreatividade, febre e claudicação da marcha com 5 dias de evolução, de agravamento progressivo. À observação, apresentava-se inconsciente (escore de coma Glasgow: 8). Laboratorialmente, apresentava hipercalcemia grave (cálcio total 21,39mg/dL, ionizado 2,93mmol/L) e anemia microcítica. Iniciou hiper-hidratação e foi transferido para a unidade de cuidados intensivos pediátricos. Instituiu-se hemodiafiltração venovenosa contínua com soluto livre de cálcio, ocorrendo a progressiva normalização da calcemia, com melhoria do estado de consciência. Administrou-se zolendronato. Excluíram-se causas metabólicas, infecciosas e intoxicação. O mielograma permitiu o diagnóstico de leucemia linfoblástica aguda. A hipercalcemia associada à malignidade em pediatria é rara, ocorrendo como forma de apresentação da neoplasia ou na recorrência desta. Em situações com risco de vida iminente, deve se considerar hemodiafiltração venovenosa contínua.

ABSTRACT Hypercalcemia is a rare metabolic disorder in children and is potentially fatal. It has a wide differential diagnosis, including cancer. Here, we report the case of a previously healthy 3-year-old who was admitted to the emergency room with fatigue, hyporeactivity, fever and limping gait that had evolved over 5 days and that was progressively worsening. On examination the patient was unconscious (Glasgow coma score: 8). Laboratory tests indicated severe hypercalcemia (total calcium 21.39mg/dL, ionized calcium 2.93mmol/L) and microcytic anemia. Hyperhydration was initiated, and the child was transferred to the pediatric intensive care unit. Continuous venovenous hemodiafiltration with calcium-free solution was instituted, which brought progressive normalization of serum calcium and an improved state of consciousness. Zoledronate was administered, and metabolic and infectious causes and poisoning were excluded. The bone marrow smear revealed a diagnosis of acute lymphoblastic leukemia. Hypercalcemia associated with malignancy in children is rare and occurs as a form of cancer presentation or recurrence. Continuous venovenous hemodiafiltration should be considered in situations where there is imminent risk to life.

The family role in children׳s sleep disturbances: Results from a cross-sectional study in a Portuguese Urban pediatric population.

BACKGROUND: Sleep Disorders (SlD) are frequently undervalued complaints in childhood. Several factors influence sleep, particularly socio-cultural environment and medical conditions such as breathing disorders. Poor sleep hygiene has physical, educational and social consequences. In Portugal, there are few published studies about children׳s sleep habits and rarely based on validated questionnaires. AIM: To study the prevalence of SlD and associated factors, in an outpatient pediatric population of a Primary Health Care Center (PHCC). METHODS: Cross-sectional study of children admitted to a PHCC on a suburban area of Lisbon. Children Sleep Habits Questionnaire, validated for the Portuguese population (CSHQ-PT) for the screening of SlD (cut-off=44), was applied to parents, as well as a demographic inquiry. Body mass index z-score was evaluated. Children scoring 44 or above were sent to Pediatric Sleep Disorders consultation (PSDC). Parametric and non-parametric tests were used whenever appropriate. RESULTS: From 128 children, 57.8% were male; the median age was 6.0 years (P 25=5.0; P 75=8.0). The median of cohabitants per family was 4.0 (P 25=3.0; P 75=5.0); 21.1% lived in a single-parent family. From CSHQ-PT, 59.4% (76) scored above the cut-off. Data showed that children from a single-parent family have more SlD (p=0.048), particularly parasomnia (p=0.019). Children with sleep disordered breathing (SDB) suffer more daytime sleepiness (p=0.034). From 63 children sent to PSDC, 33 attended. Regarding these children, a difference was found between BMI z-scores of those with and without SDB (p=0.06). CONCLUSION: Family structure plays a non-negligible role in children's sleep habits. Daily performance of children with SDB may become compromised.

Severe hypercalcemia as a form of acute lymphoblastic leukemia presentation in children.

Hypercalcemia is a rare metabolic disorder in children and is potentially fatal. It has a wide differential diagnosis, including cancer. Here, we report the case of a previously healthy 3-year-old who was admitted to the emergency room with fatigue, hyporeactivity, fever and limping gait that had evolved over 5 days and that was progressively worsening. On examination the patient was unconscious (Glasgow coma score: 8). Laboratory tests indicated severe hypercalcemia (total calcium 21.39mg/dL, ionized calcium 2.93mmol/L) and microcytic anemia. Hyperhydration was initiated, and the child was transferred to the pediatric intensive care unit. Continuous venovenous hemodiafiltration with calcium-free solution was instituted, which brought progressive normalization of serum calcium and an improved state of consciousness. Zoledronate was administered, and metabolic and infectious causes and poisoning were excluded. The bone marrow smear revealed a diagnosis of acute lymphoblastic leukemia. Hypercalcemia associated with malignancy in children is rare and occurs as a form of cancer presentation or recurrence. Continuous venovenous hemodiafiltration should be considered in situations where there is imminent risk to life.