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Computed tomography findings of retinoblastoma patients at Cipto Mangunkusumo Hospital Jakarta Asih, Dewi; Gatot, Djayadiman; Sitorus, Rita S.
Medical Journal of Indonesia Vol 18, No 4 (2009): October-December
Publisher : Faculty of Medicine Universitas Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (199.806 KB) | DOI: 10.13181/mji.v18i4.366

Abstract

Aim: As data of CT findings for retinoblatoma in Indonesia is not yet available, this study aimed to determine patient distribution and to describe CT findings of RB patients at Cipto Mangunkusumo Hospital.Methods: From April 2004 to August 2007, CT scans were performed on 64 new patients of RB with clinical findings: leukocoria (19 patients), leukocoria with proptosis (41 patients), buphthalmus (2 patients) and red eyes (2 patients). The CT can was performed using single slice CT scan and multislice CT scan with axial and coronal section. The cases were categorized into 3 groups: grade I: tumor confined to the globe, grade II: tumor extended to orbital soft tissue or involved the optic nerve, and grade III: tumor extended beyond the orbit or intracranial space. The CT features were evaluated in each group for the presence of calcifi cation, contrast enhancement and lateralization.Results: Sixty four patients (30 females and 34 males) were evaluated. Age range: 3 months up to 9 years old; bilateral 20 patients, unilateral 44 patients. Six patients of 19 patients with clinical finding leukocoria were included in group I, and the remaining were included in group II. Twenty seven patients of 41 patients with proptotic eyes were included in group II, and the remaining were included in group III. Patients with clinical finding buphthalmus and red eyes were included in group II. All of the group I tumors (6 patients) showed calcification and enhancement. In group II (44 patients), calcification was detected in 41 patients, and there was no evidence of contrast enhancement in 6 patients. Group III (14 patients): no calcification in 2 patients, all of the tumors showed enhancement.Conclusion: Our study showed calcification in 92% of RB. Calcifi cation was not a favorable prognostic sign,because calcification was detected in almost all of the extraocular and intracranial tumors. Tumor enhancement was not correlated with extra ocular tumor extension. The finding of leukocoria without proptosis could not exclude the presence of extraocular tumor extension. Suspicious intracranial invasion should be considered in proptotic RB patient. Most retinoblastoma cases in Indonesia are diagnosed at advanced stage, so that the objective of the therapy is life saving rather than visual salvation. (Med J Indones 2009; 18: 239-43)Keywords: leukocoria, enhancement, calcification
6-MONTH-OLD INFANT WITH LISSENCEPHALY TYPE I ASSOCIATED WITH MILLER DIEKER SYNDROME: A CASE REPORT Asih, Dewi; Ernes, Audrina
Ibnu Sina: Jurnal Kedokteran dan Kesehatan - Fakultas Kedokteran Universitas Islam Sumatera Utara Vol. 23 No. 2 (2024): Juli 2024
Publisher : Faculty of Medicine Universitas Islam Sumatera Utara

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.30743/ibnusina.v23i2.655

Abstract

Central Nervous System (CNS) malformations occur in 14/10,000 births. Lissencephaly is a rare spectrum of Congenital Brain Malformations (CBM) caused by genetic and non-genetic factors. Lissencephaly consists of type I and type II resulting from disrupted neuronal migration during brain development and is associated with Miller-Dieker syndrome (MDs), Fukuyama Congenital Muscular Dystrophy (FCMD), Muscle-Eye-Brain Disease (MEBD), and Walker-Warburg syndrome (WWs). Type I lissencephaly is associated with MDs, while type II is associated with FCMD, MEBD, and WWs. A 6-month-old infant presented to the emergency department of Royal Prima Medan Hospital with recurrent seizures since 5 days prior to admission, which had been observed since the age of 1.5 months without fever. The patient exhibits facial dysmorphism, growth and developmental delay, with moderate PDA and small ASD (echocardiography), and abnormal EEG and CT findings. Lissencephaly is a rare cortical developmental malformation. MDs is a genetic condition caused by a deletion on chromosome 17p13.3 with characteristics of type I lissencephaly, facial dysmorphism, and severe neurological abnormalities. MDs is a rare chromosomal anomaly and accurately diagnosing based on clinical findings alone can be challenging, thus use of Head CT scan is essential in this case.