Exploring the intersection of tuberous sclerosis and precocious puberty unveiled by hematocolpos.

We present the case of a 6-year-old girl who initially presented with acute pelvic pain, ultimately diagnosed with imperforate hymen leading to hematocolpos. Further investigation revealed additional clinical features including academic struggles, mood swings, and cutaneous findings, prompting consideration of a neurocutaneous syndrome. Magnetic Resonance Imaging (MRI) revealed features consistent with tuberous sclerosis complex (TSC), including radial migration lines in the subcortical white matter and an incidental arachnoid cyst. Notably, this case exhibited a unique presentation with absence of typical TSC findings such as subependymal nodules or cortical tubers. Additionally, precocious puberty, rarely associated with TSC, was observed, suggesting a potential link between hypothalamic lesions and hormonal imbalance. This case underscores the importance of comprehensive evaluation in pediatric patients presenting with seemingly unrelated symptoms, as it may unveil underlying conditions necessitating tailored management strategies.

Neuroimaging features in Wolfram syndrome type 1.

Wolfram syndrome type 1 is a rare autosomal recessive genetic disorder which is characterized by the co-existence of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, and hence is also referred to as the acronym DIDMOAD. In this neuroimage, the typical neuroimaging features of a genetically confirmed case of Wolfram syndrome type 1 are presented. The presence of left-sided vestibulocochlear dysplasia is a novel finding in our case which has not been reported previously.

Giant Aortic Arch Aneurysm Presenting as Ortner's Syndrome in Polycystic Kidney Disease: A Radiological Perspective.

Polycystic kidney disease (PKD) is a genetic disease characterized by the formation of multiple cysts in bilateral kidneys. While renal complications are predominant, cardiovascular manifestations such as aortic aneurysms can also occur. Although there are a few case reports of giant aortic arch aneurysms, to the best of our knowledge, this has been rarely reported in patients with PKD. Additionally, the clinical presentation of the index case is unique.

Atypical Presentation Resembling Acute Leukoencephalopathy With Restricted Diffusion in Staphylococcus aureus Meningoencephalitis.

Meningoencephalitis refers to inflammation of the brain and meninges. It can be caused by various organisms, such as Neisseria meningitidis, Streptococcus pneumoniae, and so on. Staphylococcus aureus causing meningoencephalitis is relatively rare. It is mainly encountered in patients who have undergone surgeries in the past. Acute leukoencephalopathy with restricted diffusion (ALERD) is a type of encephalopathy that can involve both white and grey matter of the brain, and it has a characteristic "bright tree appearance" on MRI. It can be because of various infectious etiologies or caused by various toxins. Neurological sequelae are observed in about two out of three cases. Here, we describe a case of S. aureus meningoencephalitis with ALERD, which has been seldom reported. More awareness about this is required among primary care physicians for timely diagnosis and management to prevent any complications.

Unusual Anterior Choroidal Artery Occlusion in Pediatric Type 1 Diabetes: A Case Report Highlighting Atypical Presentation.

Anterior choroidal artery (AChA) occlusion is a rare but significant vascular event that can lead to severe neurological deficits. Type 1 diabetes mellitus is a known risk factor for various vascular complications, although its association with AChA occlusion in pediatric patients is not commonly seen. A 13-year-old girl, a known case of type 1 diabetes for three years, presented with right-sided headache, visual disturbance in the right eye, and nausea. Magnetic resonance imaging (MRI) of the brain revealed subacute-chronic infarct in the entire left AChA. Internal carotid artery (ICA) stenosis or cardioembolism are the most common causes of complete AChA ischemic strokes. On the other hand, diabetes mellitus, hypertension, and hyperlipidemia usually cause smaller strokes that only affect a part of AChA territory. However, in our case, there was infarct in the entire AChA territory without any cardioembolic risk factor and in the absence of ICA stenosis.

Optimal duration for recording EEG in children and adolescents- a prospective interventional study.

PURPOSE: This study aimed to determine the proportion of EEG recordings yielding diagnostic findings leading to a change in diagnosis beyond a 20-minute recording window, striking a balance between diagnostic yield and clinical practicability. METHODS: At a tertiary care teaching hospital in North India, 225 subjects aged 1 month to 18 years undergoing outpatient EEG were enrolled. Patients with epileptic encephalopathies, nonepileptic phenomena, and breakthrough seizures in the last 24 hours were excluded. Two recording protocols were employed: Category A (n=163, awake recording with activation procedures for 15 minutes followed by an attempt at sleep for 60 minutes) and Category B (n=62, sleep recording for 55 minutes followed by 5 minutes of awake recording for younger children and those with impaired cognition). EEGs were prospectively reported at 20, 30, 40, 50, and 60-minute time points, with no retrospective changes allowed. RESULTS: Among abnormal EEGs, the final diagnosis was changed beyond 20 minutes in 38.9% and 20.4% in categories A and B, respectively. A significant change in the final diagnosis among abnormal EEGs beyond 20 minutes was seen in - those who achieved sleep compared to those who didn't (45% versus 19%, p=0.03) in category A, and - focal compared to generalised seizures (Category A: 26.1% versus 8.3%, p=0.01; Category B: 23.8% versus 0%, p=0.02). CONCLUSION: Forty minutes of awake EEGs with/without sleep and 30 minutes of sleep EEGs achieve a final diagnosis in nearly 90%. Prolonging awake records beyond 20 minutes, incorporating sleep, is particularly beneficial in focal epilepsies.

ASAH1 Variants Causing Spinal Muscular Atrophy Phenotype.

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare autosomal recessive disorder due to mutations in the ASAH1 gene. SMA-PME is characterized by progressive muscle weakness from three to seven years of age, drug refractory epilepsy, and variable degree of cognitive decline. Nearly 50 cases have been reported worldwide so far. Here the authors present a case of 9-y-old boy affected by SMA-PME characterized by progressive proximal weakness, and lower motor neuron disease, as proven by muscle biopsy, electro diagnostic studies and whole exome sequencing (WES). WES revealed compound heterozygous missense variant in exon 12 of ASAH1 gene (chr8: g.18059385G>C) and exon 2 of ASAH1 gene (chr8: g.18075542T>C). Patient did not have cognitive decline and epilepsy and EEG record obtained was normal. In addition to reporting a novel variant in the ASAH1 gene causing SMA-PME disease, this paper discusses previous reports and literature of the disease.