Page 374 - Abstract Book KONIKA 18

Pediatric Imaging

P-PI-009
Radiological Findings in McCune-Albright Syndrome: A Case Report

1
2
Dewi Andini Putri , Resita Sehati , Frida Soesanti , Evita Karianni Brmanshah
2
1
2
1
Department of Child Health and Pediatric Imaging Division, Departement of Child Health ,
Faculty of Medicine Universitas Indonesia/Dr. Cipto Mangunkusumo Hospital, Jakarta, Indonesia
Abstract
Background McCune Albright syndrome (MAS) is a rare multisystem disorder characterized by at
least two from the triad of polyostotic fibrous dysplasia (FD), endocrine disorders, and cafe ́-au-lait skin
hyperpigmentation. MAS is rare with an estimated prevalence from 1/100,000 to 1/ 1,000,000. MAS confirmed
through clinical, laboratory, and radiological work up. MAS caused by embryonic somatic mutation leading to
substitution of His or cysteine for arginine at amino acid 201 of the Alpha-Subunit of the signal transduction
protein Gs (Gsα). Objective To show radiological work up to confirm the diagnosis of McCune Albright
syndrome in children, consist of internal genitalia ultrasonography and bone scan. Case A 3-years-old girl,
with menstrual bleeding. Physical examination showed skin hyperpigmentation on right arm (café-au-lait
spots). Normal bone age, normal laboratory examination of hormone levels (LH, FSH, Estradiol, TSH,
fT4), and ultrasound showed pubertal stage of woman internal genitalia confirms gonadotropin-independent
precocious puberty (GIPP). Bone survey showed normal bone structure. MAS may require a pharmacologic
intervention to prevent progression of pubertal development and an early epiphyseal fusion. Therefore, this
patient should be monitored clinically for appearance of menstrual cycle, and while still asymptomatic,
whole body imaging should be delayed until age 5 years old. Conclusion Simple radiology examination
such as internal genitalia ultrasound, bone age, and bone survey can be used for McCune Albright diagnosis
confirmation in children with precocious puberty and café-au-lait spots.
Keywords: McCune Albright syndrome; internal genitalia ultrasound; café-au-lait spots

P-PI-010
Head Ultrasound Appearance of Agenesis of the Corpus Callosum:
A Case Report

Ayu Diriantini , Resita Sehati , Evita Karianni Bermanshah 2
2
1
Department of Child Health and Pediatric Imaging Division, Departement of Child Health ,
1
2
Faculty of Medicine Universitas Indonesia/Dr. Cipto Mangunkusumo Hospital, Jakarta, Indonesia
Abstract
Background Agenesis of the corpus callosum (ACC) is a rare inherited disorder. Characterized by the partial
or complete absence of the area of the brain that connects the two hemispheres. The incidence of ACC is 7 out
of 10,000 births. It is caused by disruption of brain cell migration during fetal development. It can occur as
an isolated or in combination with other cerebral abnormalities. Epileptic seizures may be the first symptom
to appear (not all ACCs have seizures). Other symptoms that can appear are poor feeding and hypotonia.
Head ultrasound (HUS) and magnetic resonance imaging (MRI) investigations can be used to evaluate ACC
with almost the same accuracy. Objective To describe the head ultrasound image in infant with suspected
agenesis of the corpus callosum Case A girl was born spontaneously without active resuscitation at 37 weeks
gestation with a birth weight of 2500 grams. The patient referred to Cipto Mangunkusumo Hospital (RSCM)
at the age of 13 days with complaints of shortness of breath and poor feeding. The patient was diagnosed
as sepsis. At the age of 15 days there was a seizure. An ultrasound examination was performed to evaluate
the cause of the seizures. From the examination widening of the lateral distance of anterior horn of the
lateral ventricles, dilatation of the 3rd ventricle, a small frontal horn, the absence of a septum pellucidum,
colpocephaly, and sunray appearance sign of gyri was found. This findings correspond to agenesis corpus
callosum. Conclusion Although there is no definitive therapy, early diagnosis is important in order to give
supportive and symptomatic therapy. Head ultrasound can be used as the first choice imaging modality to
evaluate infant with suspected ACC.
Keywords: head ultrasound; agenesis of the corpus callosum

326 KONIKA XVIII Abstract Book