Cryptorchidism is a useful clue for Idiopathic Hypogonadotropic Hypogonadism in Pituitary Stalk Thickening / Journal of the ASEAN Federation of Endocrine Societies

@#Pituitary stalk lesions can represent a wide range of pathologies. The exact cause is often unknown due to hesitancy to proceed with biopsy. We present a 16-year-old adolescent who presented with delayed puberty, short stature and bilateral cryptorchidism. He was found to have a thickened pituitary stalk of uncertain etiology with partial hypopituitarism (gonadotrophin and growth hormone deficiency) on further assessment. The presence of bilateral cryptorchidism and micropenis represents lack of “mini puberty,” a phenomenon of activation of the hypothalamic-pituitary-gonadal (HPG) axis in-utero or within the first few months of life.1 These key clinical features have been useful to establish an early temporal relationship and suggest a congenital origin of disease. This enabled a more conservative approach of surveillance to be employed as opposed to invasive pathological examination with pituitary stalk biopsy.

Spinal tuberculous disease is common in tuberculous meningitis

Background: Tuberculous disease of spine (spinal TB) is under-recognized in tuberculous (TB) meningitis.The objective of the study was to evaluate the frequency, clinical and neuroimaging changes, andoutcome in the patients with spinal TB. Methods: All the patients with spinal TB admitted in the twolargest tertiary hospitals in Kuala Lumpur from 2009 to 2017 were recruited, the clinical features weredocumented, the magnetic resonance imaging (MRI) of the spine was performed. Clinical outcome wasassessed with Modified Rankin scale (MRS). Results: Twenty two patients were recruited. This wasout of 70 TB meningitis patients (31.4%) seen over the same period. Eighteen (81.8%) patients hadconcomitant TB meningitis. The clinical features consisted of systemic symptoms with fever (63.6%),meningitis symptoms with altered sensorium (45.5%), myelopathy with paraparesis (36.4%). Thefindings on spinal MRI were discitis (36.4%), spinal meningeal enhancement (31.8%), spinal cordcompression (31.8%), psoas abscess (27.3%), osteomyelitis (22.7%), and cord oedema (22.7%). Allexcept two patients (90.9%) had involvement in psoas muscle, bone or leptomeningeal enhancement,features that can be used to differentiate from myelopathy that affect the parenchyma only, such asdemyelination. Unusual manifestations were syringomyelia and paradoxical manifestations seen in 3patients each. The outcome were overall poor, with 68% having MRS 3 or more.Conclusion: Spinal TB is common in TB meningitis. The outcome is overall poor. A heightenedawareness is crucial to enable early diagnosis and treatment.

Prediction of Histological Grade and Completeness of Resection of Intracranial Meningiomas: Role of Peritumoural Brain Edema

Background: Meningioma is the commonest primary intracranial tumour in adults. Excision is curative for low grade meningioma, whereas high-grade meningioma requires adjuvant therapy following surgery. Several studies have examined the association between peritumoural brain Edema — a common feature in meningioma — and histological grading with mixed results. The present study attempted to elucidate this association and if peritumoural brain Edema affects the intra-operative judgement of surgeons on the completeness of resection. Methods: An observational study was conducted among those who underwent surgery for meningioma. Eighteen subjects were recruited each for low- and high-grades, respectively. Magnetic resonance imaging (MRI) prior to surgery was employed for interpreting the Edema index and MRI after surgery was used to determine residual tumour. Results: Median age was 50 years, male to female ratio was 1:3.5, 69.4% had peritumoural brain Edema and 75% had reported gross resection. Among the reported gross total resection cases, 40.7% had residual tumour. Analysis showed statistically significant association between peritumoural brain Edema (P = 0.027) and tumour volume (P = 0.001) with high-grade meningioma, however multivariate analysis did not present any association. No association was noted between judgement of tumour resection by surgeons and peritumoural brain Edema. Conclusion: Odds ratio for peritumoural brain Edema remained high and the tumour volume exhibited marginal P-value marginal significance for prediction of high grade meningioma. These two factors may still contribute to the tumour grade and should be included in further studies on the prognosis of meningioma.

Neuroimaging findings are sensitive and specific in diagnosis of tuberculous meningitis

Objective: The primary objective of this study was to describe the neuroimaging changes of tuberculous meningitis (TBM), and to determine the role of neuroimaging in the diagnosis of TBM. Methods: Between January 2009 and July 2015, we prospectively recruited TBM patients in two hospitals in Malaysia. Neuroimaging was performed and findings were recorded. The control consists of other types of meningo-encephalitis seen over the same period. Results: Fifty four TBM patients were recruited. Leptomeningeal enhancement was seen in 39 (72.2%) patients, commonly at prepontine cistern and interpeduncular fossa. Hydrocephalus was observed in 38 (70.4%) patients, 25 (46.3%) patients had moderate and severe hydrocephalus. Thirty four patients (63.0%) had cerebral infarction. Tuberculoma were seen in 29 (53.7%) patients; 27 (50.0%) patients had classical tuberculoma, 2 (3.7%) patients had “other” type of tuberculoma, 18 (33.3%) patients had ≥5 tuberculoma, and 11 (20.4%) patients had < 5 tuberculoma. Fifteen (37.2%) patients had vasculitis, 6 (11.1%) patients had vasospasm. Close to nine tenth (88.9%) of the patients had ≥1 classical neuroimaging features, 77.8% had ≥ 2 classical imaging features of TBM (basal enhancement, hydrocephalus, basal ganglia / thalamic infarct, classical tuberculoma, and vasculitis/vasospasm). Only 4% with other types of meningitis/encephalitis had ≥1 feature, and 1% had two or more classical TBM neuroimaging features. The sensitivity of the imaging features of the imaging features for diagnosis of TBM was 88.9% and the specificity was 95.6%. Conclusion: The classic imaging features of basal enhancement, hydrocephalus, basal ganglia/thalamic infarct, classic tuberculoma, and vasculitis are sensitive and specific to diagnosis of TBM.

Adult-onset metachromatic leukodystrophy with compound heterozygous ARSA gene mutation presented with mania and cognitive decline

Adult-onset metachromatic leukodystrophy is often a diagnostic challenge to many clinicians. It may be presented with psychiatry symptom before other evidences of leukodystrophy are uncovered. We report a 53-year-old patient who presented with 7-year history of manic-like presentation in addition to progressive neurocognitive deterioration. Diagnosis was made eventually with neuroimaging. Mutational analysis showed compound heterozygous of ARSA gene. This case demonstrated the challenge in diagnosing this condition due to its complex neuropsychiatric presentation.