Page 199 - Abstract Book KONIKA 18

Endocrinology

P-ENDO-045
The Treatment of Graves’ Disease in Children at the Rural Area: A Case Report

Vennia Riskia Tristianti, Rosalia Theodosia Daten Beyeng 2
1
General Practitioner and Pediatrician , Department of Child Health, Lewoleba General Hospital,
1
2
Lembata Regency, East Nusa Tenggara, Indonesia
Abstract
Background Graves’ disease, which is the most common cause of hyperthyroidism, is rare yet serious
in childhood. ln Indonesia, the incidence is about 1:100.000 children. It leads to several complications.
Therefore, to prevent these complications, early detection is essential to give prompt and proper treatment.
Objective This case report aims to highlight an eleven-year-old girl with Graves’ disease given propylthiouracil
in a rural area. Case An eleven-year-old girl was admitted to the hospital with a palpable mass on her neck
since one month ago. The symptoms were tiredness, significant weight loss, sleeping difficulty, palpitation,
lack of concentration, and resting tremor. On physical examination, there was an enlarged, palpable mass
with the size of 5x3x2 cm on her neck. The thyroid function tests showed the thyroid-stimulating hormone
(TSH) level <0.003 µIU/mL (normal: 0.47-4.13 µIU/mL) and the free thyroxine (FT4) level 3.37 ng/dL
(normal: 0.78-1.31 ng/dL). The ultrasonography examination of the neck was consistent with Graves’ disease.
She was given propylthiouracil and propanolol. After one month, the symptoms decreased gradually and the
thyroid function tests were back to normal. Conclusion The early diagnosis of Graves’ disease is essential.
Since Graves’ disease treatment using propylthiouracil is associated with the risk of liver injury, methimazole
(MMI) is now the first choice of antithyroid drugs (ATDs). For this patient, propylthiouracil was given with
close monitoring of the liver function test as no MMI is available in our hospital. It’s such a big challenge
to diagnose and treat Graves’ disease in rural areas.
Keywords: Graves’ disease, hyperthyroidism, propylthiouracil

P-ENDO-046
Long-standing Intractable Epilepsy
as Initial Presentation of Hyperinsulinism-Hyperammonemia Syndrome
due to a Mosaic Missense Mutation in Glutamate Dehydrogenase Gene

Ghaisani Fadiana, Frida Soesanti
Endocrinology Division, Department of Child Health, Faculty of Medicine, Universitas Indonesia, Cipto Mangunkusu-
mo General Hospital, Jakarta
Abstract
Background Congenital hyperinsulinism is a rare condition that may lead to debilitating morbidity if
being left untreated, such as intractable epilepsy. Congenital hyperinsulinism can be accompanied by
hyperammonemia that is caused by glutamate dehydrogenase (GLUD1) gene mutation, commonly known
as hyperinsulinism-hyperammonemia (HI/HA) syndrome. Objective To demonstrate clinical manifestation,
responses of medical and nutrition intervention in a child with HI/HA syndrome. Case A 7-year-old girl was
consulted to endocrinology clinic with intractable epilepsy and history of hypoglycemia. She had history of
frequent seizures since age 5 months. She was previously diagnosed as intractable epilepsy and treated with
three antiepileptic drugs. She was admitted to hospital for hypoglycemia screen. Critical sample was drawn
when blood glucose was low (37 mg/dL). It showed elevated insulin (10.8 mmol/L), elevated ammonia
(254.1 g/dL), low beta-hydroxybutirate, low growth hormone (0.26 ng/mL), low cortisol (3.1 ug/dL) with normal
blood gas analysis. She was treated as hyperinsulinism and hypocortisolism with subcutaneous octreotide
5 mcg/kg/day, oral hydrocortisone 10 mg/m2/day, and glucose infusion. Genetic test showed mosaic GLUD1
missense variant mutation, consistent with HI/HA syndrome. She was planned to receive low-leucine formula
to help maintaining her blood glucose. Conclusion History of recurrent seizures with hypoglycemia must
be considered for further investigation for endocrine disorders, particularly hyperinsulinism. Epilepsy,
hyperinsulinism, and hyperammonemia may lead clinicians to diagnose HI/HA syndrome that can be treated
with octreotide and nutrition management alongside antiepileptic drugs.
Keywords: epilepsy; hyperinsulinism; hyperammonemia

KONIKA XVIII Abstract Book 151