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Hyperinsulinism PowerPoint Presentation

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Description : Neonatal presentation of Hyperinsulinism

Tags : Hyperinsulinism

Published on : May 13, 2020 | Views : 2155 | Downloads : 2

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Slide 1-

38 day old, Baby of N, Male 2.6 kg at birth, Term gestation, 3rd degree consanguineous parents Chief complaint: Recurrent hypoglycemic seizure episodes since day 8 of life
Slide 2-

Differentials to consider: Sepsis, IEM, Hyperinsulinism, Adrenal insufficiency, Hypopituitarism Ask for perinatal stress - birth asphyxia, maternal toxemia, maternal diabetes, prematurity, intrauterine growth retardation
Slide 3-

On examination: Weight, length and HC – within normal limits for age No micropenis/ cleft palate No hemihypertrophy of limbs No hyperpigmentation/ genital ambiguity
Slide 4-

Examine for signs of hypopituitarism and congenital adrenal hyperplasia Examine for signs of Beckwith-Wiedeman syndrome Examine for hepatomegaly for disorders of glycogen synthesis
Slide 5-

Sequence of events First noticed to have poor feeding and lethargy on day 3 of life 1st admission: Seizure (GRBS 28 mg/dl) on day 8 of life at Amalapuram. IV fluids with high GIR requirement >10 mg/kg/min. Critical sample – U. Ketones negative, S. Insulin 5 uIU/ml, VBG –no acidosis. Inj. Hydrocortisone & Inj. Octreotide was started. 2nd admission: Seizure (GRBS 34 mg/dl) on day 21 of life at Amalapuram.
Slide 6-

Inappropriately elevated plasma insulin concentrations (≥2 mcU/mL) during hypoglycemia. It is within the normal or reference range, but inappropriate in the presence of hypoglycemia.
Slide 7-

3rd admission: Seizure (GRBS 30 mg/dl) on day 34 of life at Amalapuram. 4th admission: day 38 of life @ Ankura hospital– started on 13.5 mcg/kg/day Diazoxide in 3 divided doses. Stopped octreotide. Thiazide diuretic started. DBF with additional EBM was advised. Clinical exome sequencing sent.
Slide 8-

Diazoxide - opening of the K+ channels and decreasing insulin release. Octreotide – to reduce insulin secretion if treatment with diazoxide is unsuccessful. Sirolimus – still experimental.
Slide 9-

Day 45 of life – Admitted with seizure (GRBS 10 mg/dl) at Amalapuram. - Diazoxide (14 mcg/kg/day) was continued and Inj. Octreotide was added 8 mcg/kg/dose TID subcutaneous. Was treated for sepsis with IV antibiotics. Day 56 of life – Brought to Ankura hospital
Slide 10-

Course in Ankura hospital: Child had lethargy, abdominal distension and hypoglycaemia at admission. CRP high and neutrophilic leucocytosis with thrombocytopenia. Started on IV broad spectrum antibiotics. Diazoxide was continued. Octreotide was withheld due to presence of cholelithiasis.
Slide 11-

Side effects of Diazoxide – Hypertrichosis, Edema of hands and feet, Loss of appetite, GI disturbances, Neutropenia or Thrombocytopenia Side effects of Octreotide – Cholelithiasis, Necrotising enterocolitis
Slide 12-

Blood culture grew Klebsiella species. Child improved with antibiotics. F18-DOPA PET CT abdomen – Pancreas is bulky with mild degree of diffusely increased tracer in head, body and tail of pancreas with enhancement. Genetic analysis showed homozygous, autosomal recessive ABCC8 stop gain mutation in Chr 11
Slide 13-

Imaging of choice – F18 DOPA PET scan Genetics: Mutations in the ABCC8 gene - 45% of cases Mutations in KCNJ11 - 5% of cases
Slide 14-

Inactivating mutations in ABCC8/ KCNJ11 (AR) – diazoxide resistant Missense mutations in ABCC8/KCNJ11 (AD) - diazoxide responsive GLUD1, HNF4A, and HADH mutations – diazoxide responsive
Slide 15-

Paternal uniparental disomy (insertion of paternal DNA into the maternal allele in ABCC8/KCNJ11 mutation) - focal pancreatic disease.
Slide 16-

Underwent Laparoscopic Near-total Pancreatectomy on day 66 of life and diazoxide was stopped.
Slide 17-

At Follow up: 5 and ½ months age (3 and ½ months post surgery) Wt 6.2 kg and Length 61 cm No seizures since surgery 1-2 days of low sugar readings (40-50 mg/dl) after recent immunisation Development: Rolling over, reaching for objects and babbling, recognises mother and social smile +
Slide 18-

Plan at follow up: Complimentary feeds & frequent feeds Cholecalciferol supplementation Monitoring for neuro-developmental problems/ pancreatic exocrine insufficiency GRBS monitoring & hypoglycaemia management explained