Kagami–Ogata syndrome: a case report

Abstract Background Kagami–Ogata syndrome is a rare genetic imprinting disorder involving the 14q32.2 genomic location of chromosome 14. The estimated incidence is less than 1 per 1 million. Here we report a male neonate with Kagami–Ogata syndrome presenting with severe respiratory distress requiring mechanical ventilation since birth. Case presentation A Sri Lankan male neonate born at term via caesarean section to a mother with type 1 diabetes mellitus and hypothyroidism developed respiratory distress immediately after birth. On examination, the baby had facial dysmorphism with a hirsute forehead, full cheeks, flat nasal bridge, elongated protruding philtrum, and micrognathia. His chest was small and bell shaped, and he had severe intercostal and subcostal recessions. His abdominal wall was lax and thin, with evidence of divarication of the recti. Bowel peristalsis was easily visible through the abdominal wall. The chest x-ray showed narrowing of the rib cage with crowding of the ribs in a “coat-hanger” appearance. The coat-hanger angle was 32°, and the mid-to-widest thoracic diameter was 68%. On the basis of facial dysmorphism, chest and anterior abdominal wall abnormalities, coat-hanger appearance of the rib cage, increased coat-hanger angle, and reduced mid-to-widest thoracic diameter, a clinical diagnosis of Kagami–Ogata syndrome was made. Owing to severe respiratory distress, the baby required intubation and ventilation immediately after birth. He was ventilator-dependent for 3 weeks; however, he was successfully weaned off the ventilator on day 22 after several failed extubation attempts. At 3-month follow-up, he had generalized hypotonia and mild global developmental delay. His developmental age corresponded to 2 months. Conclusions We report a patient with Kagami–Ogata syndrome presenting with respiratory distress immediately after birth. This case report highlights the importance of being aware of this rare condition, which could present as severe respiratory distress in term and preterm newborns. A positive diagnosis could avoid unnecessary treatment and aid in accurate prognostication

Body iron status of children and adolescents with transfusion dependent β-thalassaemia: trends of serum ferritin and associations of optimal body iron control

Abstract Objective This cross sectional study aims to describe the body iron status, trends of serum ferritin and associations of optimal body iron control in patients aged below 16 years with transfusion dependent β-thalassaemia attending Paediatric and Adolescent Thalassaemia Centres of the Colombo North Teaching Hospital of Sri Lanka. Results Out of 54 children, 51% were males and a majority were aged 11–16 years; 83% had β-thalassaemia major while 13% had HbE β-thalassaemia. Mean serum ferritin was 1778(± 1458) µg/l and 29% had optimal serum ferritin (below 1000 µg/l). Trend of mean serum ferritin over time showed gradual decline between 2011 and 2017 and longitudinal trend of individual patients at yearly intervals showed gradual rise until 5 years of age and plateauing thereafter. All except two patients were receiving iron chelator medication of which the most commonly used was oral deferasirox (92%). The most common iron-related complications were short stature (24.1%) and pubertal delay (42.8% of > 14 years). None of the patients had hypothyroidism, hypoparathyroidism or diabetes. Optimal serum ferritin levels were significantly associated with the diagnosis of thalassaemia at a later age (23.6 vs 9.0 months) and higher family income (OR-4.81;95%CI 1.17–19.67) however was not associated with the age of the patient or duration of transfusion

MOESM1 of Body iron status of children and adolescents with transfusion dependent β-thalassaemia: trends of serum ferritin and associations of optimal body iron control

Additional file 1: Table S1. Clinical and socio-demographic characteristics of the study population