A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).

Congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders identified by pathological erythroid precursors with perinuclear mitochondrial iron deposition in bone marrow. An international collaborative group of physicians and laboratory scientists collated clinical information on cases of CSA lacking known causative mutations, identifying a clinical subgroup of CSA associated with B immunodeficiency, periodic fevers, and development delay. Twelve cases from 10 families were identified. Median age at presentation was 2 months. Anemia at diagnosis was sideroblastic, typically severe (median hemoglobin, 7.1 g/dL) and markedly microcytic (median mean corpuscular volume, 62.0 fL). Clinical course involved recurrent febrile illness and gastrointestinal disturbance, lacking an infective cause. Investigation revealed B-cell lymphopenia (CD19⁺ range, 0.016-0.22 × 109/L) and panhypogammaglobulinemia in most cases. Children displayed developmental delay alongside variable neurodegeneration, seizures, cerebellar abnormalities, sensorineural deafness, and other multisystem features. Most required regular blood transfusion, iron chelation, and intravenous immunoglobulin replacement. Median survival was 48 months, with 7 deaths caused by cardiac or multiorgan failure. One child underwent bone marrow transplantation aged 9 months, with apparent cure of the hematologic and immunologic manifestations. We describe and define a novel CSA and B-cell immunodeficiency syndrome with additional features resembling a mitochondrial cytopathy. The molecular etiology is under investigation.

Clinical recovery of chronic intestinal pseudo-obstruction with cisapride in a complex pediatric patient.

Cisapride is a gastrointestinal prokinetic that facilitates or restores motility along the entire gastrointestinal tract. It has been used successfully to treat acute and chronic intestinal pseudo-obstructions (CIPs) in adults, but there is a paucity of literature surrounding the treatment of CIP in pediatric patients and therapies for CIP are limited and their impact is often unsatisfactory. This case report presents the use of cisapride in the management of pseudo-obstruction. Treatment with cisapride substantially improved the patient's symptoms and improved feeding tolerance. It improved his prognosis remarkably and prevented the need for end-of-life care. He experienced no adverse effects throughout the course of therapy. The treatment regimen is discussed in this case report.