An association study of severity of intellectual disability with peripheral biomarkers of disabled children in a rehabilitation home, Kolkata, India.

The current investigation has identified the biomarkers associated with severity of disability and correlation among plethora of systemic, cellular and molecular parameters of intellectual disability (ID) in a rehabilitation home. The background of study lies with the recent clinical evidences which identified complications in ID. Various indicators from blood and peripheral system serve as potential surrogates for disability related changes in brain functions. ID subjects (Male, age 10 ± 5 yrs, N = 45) were classified as mild, moderate and severe according to the severity of disability using standard psychometric analysis. Clinical parameters including stress biomarkers, neurotransmitters, RBC morphology, expressions of inflammatory proteins and neurotrophic factor were estimated from PBMC, RBC and serum. The lipid peroxidation of PBMC and RBC membranes, levels of serum glutamate, serotonin, homocysteine, ROS, lactate and LDH-A expression increased significantly with severity of ID whereas changes in RBC membrane ß-actin, serum BDNF, TNF-α and IL-6 was found non-significant. Structural abnormalities of RBC were more in severely disabled children compared to mildly affected ones. The oxidative stress remained a crucial factor with severity of disability. This is confirmed not only by RBC alterations but also with other cellular dysregulations. The present article extends unique insights of how severity of disability is correlated with various clinical, cellular and molecular markers of blood. This unique study primarily focuses on the strong predictors of severity of disability and their associations via brain-blood axis.

Early Marked Behavioral Symptoms in Bilateral Posterior Cerebral Artery Stroke: A Disguised Presentation.

Clinical signs and symptoms of posterior cerebral artery (PCA) stroke are varied and can be challenging to diagnose at early stage. A case of bilateral PCA infarct presenting with marked behavioral symptoms and minimal neurological symptoms is presented here. A 34 years old female had presented with marked behavioral symptoms, blurring of vision and tingling sensation in left half of body. Though the latter complaints resolved following day, her behavioral complaints persisted. Magnetic Resonance Imaging (MRI) of brain revealed acute non-hemorrhagic infarct in bilateral PCA territory. Psychotropics were beneficial for her behavioral symptoms. Isolated behavioral symptoms in PCA stroke led to speculate anatomical substrate for those symptoms. We discussed possible anatomical substrates for behavioral symptoms. Our case adds to the existing literature on a range of disguising presentations in PCA stroke and also emphasizes those distinctions between 'neurological' or 'psychological' or 'psychiatric' disorders are often sketchy.

Dravet syndrome with SCN1B gene mutation: A rare entity.

Early infantile epileptic encephalopathy has a grave outcome. Dravet syndrome (DS), characterized by early onset, refractory seizures, and intellectual deficit is one of the variants of the condition. SCN1B gene mutation is one of the lesser known variants of DS. Increased awareness of genetic analysis has increased the early diagnosis of DS for an early prognostication as well as genetic counselling of parents. We present the case of a 7-month old male child who started having recurrent febrile, and thereafter, afebrile seizures, following administration of a vaccination at 3 months. He developed global developmental delay, and is presently on multiple anticonvulsants. Genetic analysis was suggestive of SCN1B gene mutation associated with DS.

Diagnostic Dilemma in a 15-Year-Old Boy with Recurrent Pneumococcal Meningitis.

Recurrent bacterial meningitis is very rare phenomenon in paediatric age group. Finding the aetiology of recurrent meningitis often poses diagnostic challenge to clinicians. Among the several aetiologies, structural deficiencies at the base of skull, congenital or acquired, are readily correctable ones and hence it's imperative to find out the location of the gap in order to surgically repair it. We report the diagnostic dilemma faced while managing a 15-year-old boy with recurrent pneumococcal meningitis. Aetiology could only be found after exclusion of immunodeficiency and performing a series of imaging studies. CT cisternogram clinched the diagnosis and patient was cured successfully. A single imaging modality, be it CT/MRI scan, although proven to be better than others according to literature, might not be sufficient while finding the cause of recurrent bacterial meningitis in an immunocompetent host.

Unilateral palatal and abducens palsy in childhood hepatitis A virus infection.

Isolated cranial nerve paresis in childhood hepatitis A virus infection is rare. The authors report an instance of concomitant right-hand side palatal and abducens palsy, developing in the course of an otherwise uncomplicated hepatitis A virus infection in a 5-year-old girl. The neurological complications were transient, and she recovered completely with supportive therapy.

Pharyngeal-cervical-brachial variant of pediatric Guillain-Barré syndrome with antecedent acute hepatitis A virus infection.

Pharyngeal-cervical-brachial weakness is considered a variant of Guillain-Barré syndrome with limited oropharyngeal, neck, and upper limb muscle involvement. The authors report on a 7-year-old boy, who developed pharyngeal-cervical-brachial type of Guillain-Barré syndrome following an antecedent episode of acute hepatitis A virus infection, 2 weeks prior to admission. The presentation was characterized by acute onset dysphagia, loss of head control, and bilateral arm weakness. The diagnosis was confirmed by acute motor axonal changes in the arm and albuminocytologic dissociation of the cerebrospinal fluid. The child was treated with intravenous immunoglobulin, which resulted in gradual improvement over 3 weeks. Documented instances of this form of Guillain-Barré syndrome remain rare in the pediatric age group, with none existing following antecedent hepatitis A virus infection. The authors emphasize that acute hepatitis A virus infection be included in the triggers responsible for Guillain-Barré syndrome in children.

Childhood hepatitis A virus infection complicated by pseudotumor cerebri.

A 4-year-old male child with hepatitis A virus (HAV) infection is presented. His disease course was complicated by the development of pseudotumor cerebri (PC), as evidenced by symptoms and signs of increased intracranial pressure in the presence of normal cerebrospinal fluid examination and cranial magnetic resonance scan. The neurological examination was normal with the exception of the right-sided sixth cranial nerve paresis. His neurological course was uncomplicated with spontaneous recovery within three days. To our knowledge, this is the first report in the English literature of PC complicating the course of HAV in a child.

Transient bilateral oculomotor palsy in pseudotumor cerebri.

Pseudotumor cerebri is a clinical condition marked by papilledema, normal cerebrospinal fluid composition, normal or small ventricles on radiography, and absence of an intracranial mass. In this condition, headache, tinnitus, dizziness, blurred vision, and diplopia are frequently observed. The cause is often unknown but can occur with certain drug ingestions or systemic inflammatory and metabolic diseases. The treatment is primarily focused on the correction of the underlying cause with measures to reduce the raised intracranial pressure. The most important complication is optic atrophy, which results in visual loss. The sixth cranial nerve is most commonly affected. The involvement of the third cranial nerve is distinctly unusual. The present report describes a unique case of bilateral oculomotor palsy with sparing of the papillary fibers. It resolved promptly on administration of acetazolamide.