Cerebral venous sinus thrombosis in neonates

Neonatal Cerebrovenous sinus thrombosis(CVST) is extremely rare, however it is a devastating condition and one needs to be aware of this condition to diagnose it. The risk factors for CVST are still not properly understood. The largest registry for stroke and for neonatal CVST is from the Canadian registry which quotes an incidence of 0.6per 100,000 population per year. No data is present for the neonatal CVST in this region.One needs to be aware of this devastating condition to manage it timely and appropriately. To date there is no consensus on the role of anticoagulant therapy and therefore therapy is largely supportive, however individual cases have to be evaluated and treated on merit

Post Herpes NMDAR Encephalitis in A 8 Month Old Girl

Patients with Herpes Simplex virus Encephalitis are seen to have a relapse of symptoms namely seizures and choreoathetoid movements along with impairment of consciousness1. Though infective relapse is a possibility requiring extended antiviral therapy2, immune mediated mechanism is most probable.3 Although there is a similarity of symptoms between relapsing HSVE and N-methyl-D-aspartate receptor (NMDAR) antibody encephalitis, the most likely culprit is the latter

Neuromyelitis optica (devic’s disease) in a 10 years old boy.

Neuromyelitis optica (NMO) also known as Devic’s disease is an acute demyelinating disorder combined with optic neuritis and transverse myelitis.A 10 years old boy presented in the ER with the complaints of fever and back pain for past 10 days and inability to walk for 6-7 days. He had developed urinary retention and constipation for the past 5 days along with abdominal distension. There was also blurring of vision in the left eye with only light perception and rapid afferent papillary defect was present while the right eye was normal. The provisional diagnosis was Transverse myelitis vsNeuromyelitisoptica (NMO). CSF revealed TLC 4, protein 54mg/dl, glucose 66mg/dl. Oligoclonal bands were negative. There was raised CPK. Visual evoked potential (VEP) showed prolongation of P100 latency along with amplitude loss, in left eye.His MRI spine showed extensive involvement of the spinal cord especially the cervical cord and there was no involvement of the brain. Left eye had optic neuritis.He was treated with steroid pulse therapy and later Plasmapharesis and was discharged home on azathioprine with no motor deficit but the visual loss was irreversibl

An unusual presentation of neurononopathic gauchers disease.

A six years old male child presented with tremor, ataxia, speech apraxia, supranuclear gaze palsy and hepatosplenomegaly. There was no history of seizures and psycho-cognitive abnormalities. The clinical and bone marrow findings were consistent with Gaucher\u27s disease type 3. KEY WORDS: Gauchers disease, Enzyme replacement therapy, Gene therapy, Bone marrow transplant

Subacute sclerosing panencephalitis – Current perspectives

Subacute sclerosing panencephalitis is a progressive neurodegenerative disease. It usually occurs 7–10 years after measles infection. The clinical course is characterized by progressive cognitive decline and behavior changes followed by focal or generalized seizures as well as myoclonus, ataxia, visual disturbance, and later vegetative state, eventually leading to death. It is diagnosed on the basis of Dyken’s criteria. There is no known cure for subacute sclerosing panencephalitis to date, but it is preventable by ensuring that an effective vaccine program for measles is made compulsory for all children younger than 5 years in endemic countries

Brain calcinosis and seizures in an adolescent boy.

The article focuses on the manifestation of cerebral calcification in an adolescent boy. Cerebral calcification, which is detected using computed tomography, is usually associated with disorders like sporadic and heredofamilial entities. The Patient was rushed to the hospital after his mother observed that he have altered behavior and generalized tonic-clonic seizures. He was started on intravenous calcium supplementation, phosphate binder and vitamin D supplementation and during later observations, he was found to have developed according to his age

Acute childhood ischemic stroke: a pakistani tertiary care hospital experience

Stroke in pediatric population is increasingly recognized and has diverse clinical presentation and risk factor profile. Majority of patients survive acute stroke but remain disabled. The reported literature on the subject from our part of world is scarce.Methods:A retrospective chart review was carried out for stroke patients between 1 month and 14 years of age, admitted between January 2009 and January 2015. Their demographic, clinical and radiological data was collected and analyzed.Results:Twenty nine patients were admitted with stroke over 5 years. Their mean age was 5.7 ±11.7 and male to female ratio was 3:1. The most common clinical features reported were seizures (72%), paresis (62%), and altered mental status (52%) followed by fever (38%), cranial nerve palsies (34%) and vomiting (35%). Cardiovascular diseases (28%) were the most common identifiable etiologic factors. Only 59% had unilateral strokes. Fifty five percent had anterior circulation strokes, 14% had posterior circulation strokes while 31% had involvement of both vascular territories. Only 31% had single vessel strokes. Twenty-eight percent of the patient died during the hospital stay (mean stay was 7±5 days). 62% of the infants compared to 18% of older kids (p=0.01), 62% of patients with both vascular territories compared 15% in single territory (p=0.03) and 58% of patients with bilateral strokes compared to 6% in unilateral strokes (p=0.03) died.Conclusions: Cardiovascular diseases are most common etiologic factors of stroke in pediatric age group and it carries high acute mortality. Bilateral and multiple territorial strokes, and age less than one year were associated with acute mortality

Mabry syndrome in a child of South Asian descent

Mabry syndrome is the triad of seizures, hyperphosphatasia, and mental disability. It usually manifests in first year of life and has an autosomal recessive mode of inheritance. Besides the usual triad, other manifestations of Mabry syndrome include hypoplasia of distal phalanges, brachytelencepahly, gastrointestinal malformations and constipation, hypertelorism, short nose with a broad nasal bridge and dip, and thin upper lip with down turned corners of the mouth. More than 20 cases of Mabry syndrome have been reported in medical literature. Herein, we report the case of a six-month child with Mabry syndrome that presented with decreased neck holding, hypotonia and delayed motor milestones. The child also had a high-arched palate and hyperplastic malar eminences. Constipation was present but had a delayed onset, starting at 19 months of age. This is the first case of Mabry syndrome occurring in a child of South Asian descent