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2016 ; 4
(1
): 2324709616632552
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Hyperinsulinism Hyperammonemia Syndrome, a Rare Clinical Constellation
#MMPMID26962538
Hussain J
; Schlachterman A
; Kamel A
; Gupte A
J Investig Med High Impact Case Rep
2016[Jan]; 4
(1
): 2324709616632552
PMID26962538
show ga
We present the unique case of adult hyperinsulinism hyperammonemia syndrome
(HI/HA). This condition is rarely seen in children and even more infrequently in
adults. A 27-year-old female with HI/HA, generalized tonic-clonic seizures,
staring spells, and gastroesophageal reflux disease presented with diffuse
abdominal pain, hypoglycemia, confusion, and sweating. She reported a history of
significant nausea, vomiting, and diarrhea, which had been present intermittently
over the past year. On examination, she was found to have a soft, nontender, and
mildly distended abdomen without splenomegaly or masses. She had a normal blood
pressure and was tachycardic (130 bpm). Her initial complete blood count and
basic metabolic panel, excluding glucose, were within normal limits. She was
found to have an elevated peripherally drawn venous ammonia (171 mmol/L) and near
hypoglycemia (blood glucose 61 mg/dL), which were drawn given her history of
HI/HA. She was continued on home carglumic acid and diazoxide, glucose was
supplemented intravenously, and she was started on levetiracetam for seizure
prophylaxis. An upper endoscopy (esophagogastroduodenoscopy [EGD]) was performed
and was unremarkable, and biopsies taken were within normal limits. Following the
EGD, she underwent a gastric emptying study that showed delayed emptying (216
minutes), consistent with a new diagnosis of gastroparesis, the likely etiology
of her initial abdominal pain on presentation. This was subsequently treated with
azithromycin oral solution. We present this case to raise awareness of this
rarely encountered syndrome and to provide the basic principles of treatment.