Shilpa D. Kulkarni

Acute encephalopathy with biphasic seizures and late reduced diffusion

Acute encephalopathy with biphasic seizures and reduced diffusion (AESD) is a syndrome of encephalopathy characterized by biphasic seizures and altered consciousness in the acute stage followed in the subacute stage by restricted diffusion in the subcortical white matter on magnetic resonance imaging. The etiology of AESD has been attributed to viral infection like influenza A and human herpes virus 6. The exact pathogenesis of AESD is uncertain. Here we report a case of AESD, diagnosed based on clinicoradiological correlation.

Neurognathostomiasis in a young child in India: A case report.

Eosinophilc meningitis is commonly associated with Angiostrongylus and Gnathostoma infection and has largely been reported from Thailand. We present the first case report of neurognathostomaisis in a pediatric patient from India. A 3.5 year old girl presented with fever, parasthesis, behavioral changes followed by flaccid quadriparesis. Neuroimaging showed haemorrhagic radiculomyelitis with cerebrospinal fluid eosinophilia. Diagnosis of Gnathostoma infection was confirmed serologically and she was treated with anthelminthic drugs and steroids. This report emphasizes the increasing importance of central nervous system helminithic infections as an alternative diagnosis to common infections like neurotuberculosis in developing countries, even in pediatric patients. Increasing intercontinental travel and migration have increased the incidence and importance in the developed world as well.

Atypical presentation of Charcot-Marie-Tooth disease 1A: A case report.

Charcot-Marie-Tooth (CMT) 1A is the most common form of CMT disease and is characterized by duplication of Peripheral myelin protein 22 (PMP22) gene. We report a boy with genetically confirmed CMT1A disease having clinical involvement of hypoglossal and glossopharyngeal nerves, as well as asymmetrical and primarily upper limb involvement. These atypical features widen the clinical spectrum of CMT1A, leading to interesting observations about PMP22 gene related disorders and varied clinical expression of similar genetic mutations.

Uncommon Disorders Masquerading as Acute Flaccid Paralysis in Children.

The syndrome of acute flaccid paralysis (AFP) is a common medical emergency in children. In the era of poliomyelitis eradication, the common causes of AFP include Guillain-Barré syndrome (GBS), transverse myelitis and traumatic neuritis. However, many common diseases can uncommonly present as AFP and some uncommon diseases may also masquerade like it. Uncommon causes of AFP seen at a tertiary care pediatric hospital are discussed along with relevant points in diagnosis and management. Also, common pitfalls in diagnosis of pediatric AFP and an approach to investigations are discussed.

Two unusual cases of PLA2G6-associated neurodegeneration from India

Phospholipase A2-associated neurodegeneration (PLAN) comprises of three disorders with overlapping presentations. The most common of these is classical or infantile-onset phospholipase A2-associated neurodegeneration, also known as infantile neuroaxonal dystrophy (INAD). Only 1 case of INAD has been reported from India till now. We report two genetically confirmed patients seen at a tertiary care pediatric hospital. Both these patients presented with infantile onset of neuroregression. We believe that INAD is underrecognized and underreported from India.

Hemispherotomy in an infant with hemimegalencephaly

Hemimegalencephaly (HME) is a rare hamartomatous congenital malformation of the brain. The epilepsy pattern in HME can be partial seizures or may present as spasms as in epileptic encephalopathy. Epilepsy associated with HME is usually resistant to antiepileptic drugs and requires surgical intervention. Hemispheric disconnection has been reported to be efficient in seizure control and prevents further cognitive injury and developmental delay. We report a case of HME, who underwent a two-stage hemispherotomy due to complications in the first surgery. She had more than 90% reduction of seizures with good developmental outcome on follow-up. Thus, despite risks of the procedure, early surgery should be preferred in infants with HME.

Herpes simplex encephalitis with thalamic, brainstem and cerebellar involvement

Herpes simplex virus encephalitis is a common and treatable cause of acute encephalitis in all age groups. Certain radiological features such as temporal parenchymal involvement facilitate the diagnosis. The use of herpes simplex virus polymerase chain reaction has expanded the clinical and imaging spectrum. We report the case of a young patient who presented with a movement disorder and predominant involvement of thalami, brainstem and cerebellum on magnetic resonance imaging, and was diagnosed with herpes simplex virus encephalitis. Differentiation from Japanese encephalitis may be difficult in these patients, especially in endemic areas, and may necessitate the use of relevant investigations in all patients.

Diabetes mellitus as the presenting feature of Friedreich's ataxia

Patients with Friedreichs ataxia (FA) are at an increased risk of developing diabetes mellitus and glucose intolerance. Diabetes usually develops many years after the initial presentation. We report an 8-year-old girl who initially presented with diabetic ketoacidosis and was treated as a case of insulin-dependent diabetes mellitus. Around a year later, she developed gait problems and ataxia. Cardiac involvement was detected on echocardiography. Genetic testing confirmed the diagnosis of FA. FA should be a diagnostic consideration in children presenting with diabetes and neurological issues, even with early presentation of the former. Early occurrence of diabetes and rapid progression of ataxia in this patient needs a better understanding of underlying genetic mechanisms.

Aortic and pulmonary artery calcification: An unusual manifestation of twin-to-twin transfusion syndrome.

Twin-to-twin transfusion syndrome (TTTS) at times complicates monochorionic twin gestations, resulting in conditions ranging from discordant sizes to fetal demise of one baby. Various types of cardiac defects have been described in the recipient twin of this syndrome. Isolated great artery calcification, i.e. aortic and pulmonary artery calcification is one such uncommon condition associated with TTTS. Calcification of the walls of great vessels may be due to chronic vascular injury sustained as a result of circulatory volume overload in the recipient twin. It may also cause severe systemic hypertension and cardiomyopathy. An accurate diagnosis is important for an optimal follow-up and appropriate genetic counseling. We report a case of aortic and pulmonary artery calcification in association with TTTS.

Starry-Sky Appearance in Neurotuberculosis.

This 2.5-year-old previously healthy boy presented with gradual loss of motor and speech milestones over four months. He had stopped walking, standing, speaking, and had become increasingly irritable. There were no seizures, fever, or altered sensorium. There had been no significant illness among family members. His head circumference was 50 cm (85th percentile). He had brisk tendon jerks, ankle clonus, and extensor plantar responses. His general and systemic examination was normal. Magnetic resonance imaging of the brain and spine showed “starry-sky” appearance, with numerous ring-enhancing lesions in the entire cerebral cortex, cerebellum and spinal cord, with hydrocephalus (Fig 1A-C) Investigations for neurocysticercosis (cysticercus antibody, antigen byWestern blot, ultrasonogram of muscles, echocardiogram) were negative. Mantoux test for tuberculosis, gastric aspirate for acid-fast bacilli, and interferon-gamma release assay were normal. His chest X-ray revealed lymphadenopathy, and his chest