Page 367 - Abstract Book KONIKA 18

Nutrition & Metabolic Diseases

P–NMD–019
Marasmus and Stunting in A 7-month-old Girl with Sepsis, Community Acquired
Pneumonia, Epilepsy, Microcephaly, and Craniosynostosis

Try Kartika Eka Putri, Aidah Juliaty A. Baso, Destya Maulani
Department of Child Health, Faculty of Medicine Universitas Hasanuddin/
Dr. Wahidin Sudirohusodo General Hospital, Makassar, South Sulawesi, Indonesia

Abstract
Background Childhood malnutrition occurs predominantly in children <5 years living in low and
middle income countries including stunting, marasmus and kwashiorkor. Nearly half of all deaths
occur in malnourished children are due to their increased susceptibility to life-threatening infections.
Objective To report marasmus and stunting in a 7-month-old girl with sepsis, community acquired
pneumonia, epilepsy, microcephaly and craniosynostosis. Case A 7-month-old girl was brought to hospital
due to dyspnea, cough and fever since two days prior to admission. She appeared to be shorter and skinnier
compared to children her age. She had suffered from frequent seizure. On physical examination her general
condition was severely ill, severely wasted and conscious.The patient's weight is 2.9 kg and body length is
50 cm with bodyweight/height is between -2SD and -3SD and height/age is under -3SD. Microcephaly, old
man face, xylophone ribs and wasting were observed. There was tachypnea with subcostal retraction and
rhonchi in both ofher lungs. Laboratory results revealed leucocytosis, hypoalbuminemia, increased CRP and
procalcitonin. Radiological examination showed the presence of bilateral pneumonia and the ct scan of the
head revealed craniosynostosis and cerebral hypoplasia. Patients were given management of malnutrition,
antibiotics, supportive and symptomatic management. After 7 days of hospitalization,her condition was
improved. Conclusion Malnutrition in children is a problem that has both short and long term consequences.
Malnutrition is a factor that increases susceptibility to severe infections. Prompt and appropriate treatment
can improve the patient's prognosis.
Keywords: malnutrition; marasmus; sepsis; microcephaly; craniosynostosis

P–NMD–020
A Rare Case of Joubert Syndrome

1
Lanny Christine Gultom , Valensia Vivian The 2

Nutrition and Metabolic Disease Division, Department of Child Health, Fatmawati Hospital
General Practitioner, Primaya Evasari Hospital , Jakarta, Indonesia
2
Abstract
Background Joubert syndrome (JS) is a rare autosomal recessive disorder affecting the brain.It is characterized
by developmental delay, ataxia, abnormal eye movement, breathing abnormalities, and brain malformation.
Joubert syndrome related disorder (JSRD) refers to individuals who also have other clinical findings such
as ocular, renal, hepatic and orofaciodigital defect. The diagnosis is made based on clinical presentation and
brain imaging, with the confirmation of genetic testing. Objective To report the clinical presentation of a
confirmed Joubert syndrome case. Case A fourteen-month-old boy was referred to Fatmawati Hospital due
to severemalnutrition. He hadhistory of two-week care in neonatal intensivecare unit due to periodic apnea
and occipitalmeningoencephalocele surgery. From physical examination, the patient was severely wasted
and had eye abnormality, high arch palate, polydactyly,ataxia,and developmental delay.Mild renal and
cardiac defect were also present.Head CT scan revealedmolar tooth sign which is pathognomonicfor Joubert
syndrome. The disease was undiagnosed although previous head CT scans showed same result. Genetic
analysisrevealeda positive pathogenic variant ofthe TMEM237 gene (homozygous of c.677+1G>A),which
is consistent with Joubert syndrome type 14. Conclusion Despite its rare occurrence, Joubert syndrome
might be diagnosed early due to its specific finding on brain imaging. Brain imaging should be thoroughly
examined for pathognomonic signs. To date, no cure is available for Joubert syndrome and therefore patients
have poor prognosis.Early diagnosis could reduce morbidity and assist in genetic counselling.
Keywords: Joubert syndrome; molar tooth sign; brain imaging

KONIKA XVIII Abstract Book 319