Grazia Morandi

Difficult management of glucose homeostasis in a 21-month-old child with type 1 diabetes and unknown glutaric aciduria type I: a case report.

A 21-month-old boy with previously diagnosed type 1 diabetes was admitted to our unit, presenting with glycometabolic failure (pH 7.30; base excess −11.9 mmol/L; blood glucose 17.3 mmol/L; HbA1c 10.4% [90 mmol/mol]; glycosuria; and ketonuria). During physical examination he was dehydrated and pale and presented with axial hypotonia with hyposthenia, poor head control, hypotonic legs, and hyporeflexia. His neurological clinical status became compromised after the diagnosis of type 1 diabetes when he was 15 months old. During hospitalization, the management of blood glucose homeostasis was difficult because of a high level of glycemic variability. Hypo- and hyperglycemic episodes were associated with acute encephalopathic crises characterized by hypotonia, dyskinetic movements, difficulty swallowing, and episodes of opisthotonus with no loss of consciousness. For better control of blood glucose, subcutaneous insulin treatment was …

Limb hypertrophy: a skin vascular malformation and bilateral hydroureteronephrosis in a neonate

The second daughter of two healthy non-consanguineous parents, born at 37 weeks, presented with a large 3×2 cm abdominal angiomatous formation on her left flank, associated with left leg hypertrophy, macrodactyly of both feet with syndactyly of the second and third finger of the right food and left polydactyly (figure 1). Her neurological development and cardiopulmonary function were normal; she had no gastrointestinal or skeletal problems. Her weight was 3195 g (75th-90th centile). edpract;archdischild-2017-314021v2/F1F1F1Figure 1Photos of the lower limbs and the left side of the abdomen reveal bilateral hypertrophy of the limbs, more evident in the left leg, macrodactyly of both feet with syndactyly of the second and third finger of the right foot and left polydactyly and a large abdominal angiomatous formation. QUESTIONS 1: What investigations would you think of in a baby with limb hypertrophy and a vascular malformation? Limb X-rays followed by abdominal and limb CT scanLimb muscles and soft tissues MRIKidney and limb ultrasound followed by abdominal and limb CT scanThigh, leg and abdominal MRI and in second instance brain MRIThigh, leg and abdominal CT scan and brain MRI. QUESTIONS 2: Which overgrowth syndrome includes limb hypertrophy, skin vascular malformations and bilateral hydroureteronephrosis?Neurofibromatosis type ISotos syndromeBeckwith-Wiedemann syndromeMadelungs diseasePIK3CA-related overgrowth spectrum (PROS) disorder. Answers to the questions are on page 02 Answers to the questions on page 1.

Newborn with rhizomelia and difficulty breathing

1 Department of Pediatrics, Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata of Verona, Piazzale Ludovico Antonio Scuro, 10, 37134 Verona, Italy 2 Pediatric Clinic, Department of Life and Reproduction Sciences, University of Verona, Verona, Italy Skeletal Radiol (2017) 46:231 DOI 10.1007/s00256-016-2536-y

Painless bilateral swelling of the face: think about cherubism

A 4-year-old Caucasian male child was referred to our padiatric clinic with bilateral facial swelling. When he was 3 years old, he had started to develop an enlargement of the cervical lymph nodes and of the jaw, which gave him a full-faced cherubic appearance (figure 1). Clinical examination revealed swelling of both rami of the mandible with bilateral expansion of the mandibular angle extending to the molar and retromolar regions. Panoramic radiography showed generalised multicystic bilateral radiolucent lytic …