Congenital Generalized Lipodystrophy 3 & 4 Presenting as Pancreatitis


Lingudu Brahmanandam, Bongi Vivekanand, Ayyagari Mythili, Kandregula Appala Venkata Subrahmanyam

A 7 years child presented with abdominal pain of 3 days duration in epigastric region (radiating to the back, aggravated with food, and relieved partially on bending forward), abdominal distension, non-bilious vomiting, dyspnoea and altered sensorium. Systemic examination revealed hepatomegaly, tachypnoea, bilateral intercostal retractions and hypovolemic shock. There was no significant past history that is relevant to the present case scenario. There was history of voracious appetite. Also, child had exercise intolerance and cannot cope up with his peers in physical activity. There was no significant family history. The child was born to consanguineous couple. He was born at 40 weeks of gestation and had not cried immediately after birth and had history of neonatal convulsions and used antiepileptics for one month and later stopped. No further convulsions since then. Developmental milestones were appropriate for age. General examination revealed lipoatrophy, muscular hypertrophy, acromegaloidism, acanthosis nigricans and hypertrichosis. Clinically diagnosed as acute pancreatitis. Biochemical evaluation revealed elevated amylase and lipase suggestive of pancreatitis. Also found hyperglycaemia. Managed with fluid boluses, inotropes, octreotide, intravenous antibiotics and metformin. Hypertriglyceridemia was found while evaluating aetiology of pancreatitis. Ultrasound abdomen revealed changes suggestive of pancreatitis, ascites and altered hepatic echotexture. Magnetic resonance imaging showed pancreatic pseudocyst of size 10 x 9 cm. Hormonal evaluation revealed low levels of leptin suggestive of lipodystrophy. Genetic analysis confirmed the diagnosis of congenital generalized lipodystrophy 3&4. Child’s height was 116 cm (between 10th and 25th percentile), weight was 19 kg (between 10th - 25th percentile), and body mass index (BMI) was between 25 - 50th percentile. child had complete absence of subcutaneous fat over trunk, limbs and face and muscular hypertrophy (figure 1), severe acanthosis nigricans over fingers, toes, axillae and groin, phlebomegaly (figure 2). Child also had hypertrichosis, prominent orbital ridges, prognathism and acromegaloidism (figure 3). Genitals were normal. Musculoskeletal examination displayed good power in the extremities. Muscle stretch reflexes were normal. He was able to stand and ambulate independently. Joint examination was normal. Child was in altered sensorium and tachypnoeic at time of admission. He was afebrile at admission. Patient was kept in paediatric intensive care unit at the time of admission. Systemic examination revealed bilateral lower intercostal retractions, bilateral crepitations, hepatomegaly and hypovolemic shock. Clinically diagnosed as acute pancreatitis with multisystem involvement and treated with fluid boluses for management of hypovolemic shock followed by inotropes, octreotide and intravenous antibiotics. Patient general condition improved over 3 days with regaining of sensorium, decreased respiratory rate and became normotensive and transferred to paediatric ward for further evaluation and management