Delayed puberty and anosmia in CHARGE Syndrome: A case report / Journal of the ASEAN Federation of Endocrine Societies

@#A 26-year-old female presented to the paediatric clinic at 11 years of age with poor growth. The detection of delayed puberty, anosmia, coloboma and hearing impairment led to a diagnosis of CHARGE syndrome. This was confirmed by a heterogenous de novo pathogenic variant c.6955C >T:p.(Arg2319Cys) detected in the CHD7 gene. Detailed assessment, including olfaction, ophthalmic and auditory examination should be part of the evaluation framework in children with delayed growth and puberty.

Acute Necrotizing Encephalopathy of Childhood: A Severe Case with Fatal Outcome

@#Acute necrotizing encephalopathy of childhood (ANEC) is a rare condition which is important for clinicians to recognize as it has a high mortality rate and can result in significant neurological morbidities. It presents as acute encephalopathy with radiological findings of symmetrical brain lesions in bilateral thalami, putamen, brain stem tegmentum, internal capsule, periventricular white matter and cerebellar medulla. Intravenous methylprednisolone is the mainstay of treatment. Immunoglobulin therapy and therapeutic hypothermia may be used as adjunctive therapy in cases with severe clinical and neuroradiological presentation. We present a case of severe ANEC and discuss the clinical manifestations, neuroimaging and management options.

Clinical features of girls with Turner syndrome in a single centre in Malaysia / Journal of the ASEAN Federation of Endocrine Societies

@#<p><strong>OBJECTIVES:</strong> Diagnosis of Turner syndrome in Malaysia is often late. This may be due to a lack of awareness of the wide clinical variability in this condition. In our study, we aim to examine the clinical features of all our Turner patients during the study period and at presentation.</p><p><strong>METHODOLOGY:</strong> This was a cross-sectional study. Thirty-four (34) Turner patients were examined for Turner-specific clinical features. The karyotype, clinical features at presentation, age at diagnosis and physiologic features were retrieved from their medical records.</p><p><strong>RESULTS:</strong> Patients with 45,X presented at a median age of 1 month old with predominantly lymphoedema and webbed neck. Patients with chromosome mosaicism or structural X abnormalities presented at a median age of 11 years old with a broader clinical spectrum, short stature being the most common presenting clinical feature. Cubitus valgus deformity, nail dysplasia and short 4th/5th metacarpals or metatarsals were common clinical features occurring in 85.3%-94.1% of all Turner patients. Almost all patients aged ?2 years were short irrespective of karyotype.</p><p><strong>CONCLUSION:</strong> Although short stature is a universal finding in Turner patients, it is usually unrecognised till late. Unlike the 45,X karyotype, non-classic Turner syndrome has clinical features which may be subtle and difficult to discern. Our findings underscore the importance of proper serial anthropometric measurements in children. Awareness for the wide spectrum of presenting features and careful examination for Turner specific clinical features is crucial in all short girls to prevent a delay in diagnosis.</p>