Hypotonia in a newborn presents a diagnostic challenge for clinicians. It is an important clinical feature that may indicate an underlying systemic illness or neurological problem at the level of the central or peripheral nervous system. It is important to know the different presentations of hypotonia and to have the knowledge of the diagnostic work up which requires multidisciplinary assessment and input and the prognostic implications of these disorders. This review article presents a structured approach highlighting initial assessment, examination, and management of a neonate with generalized hypotonia.

Cranial sonography continues to hold an important place in neonatal care. Attributes favorable to sonography that make it almost indispensable for routine care of the newborn includes easy access, low cost, portability, lack of ionizing radiations and exemption from sedation or anaesthesia. Cranial sonography has highest impact in neonates suspected to have meningitis and its complications; perinatal ischemia particularly periventricular leukomalacia (PVL); hydrocephalus resulting from multitude of causes and hemorrhage. Not withstanding this, cranial sonography has yielded results for a repertoire of indications. Approach to cranial sonography involves knowledge of the normal developmental anatomy of brain parenchyma for correct interpretation. Correct technique, taking advantage of multiple sonographic windows and variable frequencies of the ultrasound probes allows a detailed and comprehensive examination of brain parenchyma. In this review, we discuss the technique, normal and variant anatomy as well as disease entities of neonatal cranial sonography.

Objective: Proatlas segementation anomalies are due to defective re-segmentation of the proatlas sclerotome. These anomalies of the craniovertebral junction are rare and have multiple presentations. The aim of this study is to report this author's personal experience in managing five of these patients with different radiological findings necessitating different surgical strategies and to provide a brief review of the relevant literature. Materials and Methods: Five patients, all in the second decade of life were treated between 2010 and 2013. There were three males and two females. All the patients presented with spastic quadriparesis and/or cerebellar signs. Patients underwent plain radiographs, MRI and CT of the craniovertebral junction. CT of the cranioveretebral junction was the key to the diagnosis of this anomaly. Postoperatively, patients were assessed with plain radiographs and CT in all patients and MRI in one. Results: Two patients underwent craniovertebral realignment with occipitocervical fixation, two patients underwent C1-C2 fixation using Goel-Harms technique and one patient underwent craniovertebral realignment with C1-C2 fixation using spacers in the atlanatoaxial joint and foramen magnum decompression. All patients improved during follow up. Conclusions: Proatlas segmentation defects are rare anomalies of the craniovertebral junction. Routine use of thin section CT of the craniovertebral junction and an awareness of this entity and its multivarious presentations are necessary for clinicians dealing with abnormalities of the craniovertebral junction.

Objective: Lumbar intervertebral disc herniation (LIVDH) is rare in children and adolescents when compared to adults. In literature, children generally constitute around 0.5–3% of surgically treated LIVDH. Though much rarer, they are less likely to respond to conservative treatment than adults. In this study, we analyze our experience in the management of adolescent LIVDH (ALIVDH) (age group 12–18 years) including the demographic, clinico-radiological features; surgical management strategies and outcome. Materials and Methods: This retrospective analysis constituted all patients between 12 and 18 years, who underwent surgery for LIVDH at our institute over a period of 15 years from January 1999 to June 2014. The records of these patients were retrieved, and demographic features, clinical picture, radiological features, operative findings, and postoperative events were evaluated. Follow-up data were obtained either through direct clinical evaluation or mailed self-report questionnaire and telephone conversations. The long-term outcome was analyzed by using standardized and condition specific outcome scales in addition to routine clinical follow-up evaluation. The long-term outcome was analyzed by using the short form-36 (SF-36).Results: There were a total of 32 patients (26 males, eight females) with an average age of 15.64 years. Trauma was a significant etiological factor 57.14% (n = 16/28). Vertebral anomalies were present in 35.7% (n = 10/28) cases. Majority had a neurological deficit at presentation (n = 20/28). The most commonly involved level was the L4–L5 level (n = 18/128) in this series. Multiple level disc degeneration was present in eight patients (28.6%). Immediate postoperative relief was achieved in all but one patient. At long-term follow-up twenty patients were pain-free (71.4%). At follow-up, the physical functioning scale of SF-36 was significantly lower in patients with gross motor deficit prior to surgery. Conclusions: Early diagnosis and adequate management contribute to a good outcome. In our study, trauma and presence of preexisting vertebral anomalies were significant factors in the etiogenesis of ALIVDH.

Introduction: Perinatal asphyxia is a major cause for neonatal mortality and morbidity around the world. The reduction of O₂results in the generation of reactive oxygen species which interact with nucleic acid and make alteration in the structure and functioning of the genome. We studied the effect of therapeutic hypothermia on chromosomes with karyotyping. Subjects and Methods: Babies in the hypothermia group were cooled for the first 72 h, using gel packs. Rectal temperature of 33–34°C was maintained. Blood sample was collected after completion of therapeutic hypothermia for Chromosomal analysis. It was done with IKAROS Karyotyping system, Metasystems, based on recommendations of International system of human cytogenetic nomenclature. Results: The median chromosomal aberration was lower in hypothermia [2(0-5)] than control group [4(1-7)] and chromatid breakage was commonest aberration seen. Chromosomal aberration was significantly higher in severe encephalopathy group than moderate encephalopathy group. Conclusion: We conclude that the TH significantly reduces DNA damage in perinatal asphyxia.

Background: Interhemispheric arachnoid cysts (IHACs) are a rare type of congenital arachnoid cyst accounting for <5% of all cases. The optimum surgical management of symptomatic IHAC is still controversial, and there are no clear guidelines. Materials and Methods: Retrospective analysis of six pediatric patients of IHAC operated from 2012 to 2015 at our institute. There was definitive sex predisposition with all patients being males. Endoscopic cystoventriculostomy, cystocisternostomy, and cystoperitoneal shunt surgeries were performed in three patients each. Results: The median age at presentation was 13 months. The most common clinical presentations were macrocrania with rapidly increasing head size, seizures, infantile spasms, and developmental delay. The mean duration of follow-up was 24.16 months (range: 3–36 months). Cyst size decreased in all the patients on follow-up imaging. Head size stabilized in all the patients. None of the patients required a second surgical procedure till the last follow-up. Conclusions: Both endoscopic cyst fenestration and shunt surgery are safe and effective in management of IHAC.

Objective: Hydrocephalus is a most common complication of tubercular meningitis (TBM). Relieving hydrocephalus by ventriculoperitoneal shunt (VPS) placement has been considered beneficial in patient in Palur Grades II or III. The role of VPS placement in those of Grades III and IV is controversial, and general tendency is to avoid its use. Some authors have suggested that patient in Grades III and IV should receive a shunt only if their condition improves with a trial placement of external ventricular drain (EVD). However, recent studies suggest that VPS may be undertaken without the trial of an EVD. Our study prospectively evaluates the role of direct VPS placement in patient in Grades III and IV TBM with hydrocephalus (TBMH). Materials and Methods: This study was carried out on 50 consecutive pediatric patients of TBMH in Palur Grades III and IV from July 2013 to December 2014 in R.N.T. Medical College and M.B. Hospital, Udaipur, Rajasthan. All patients underwent direct VPS placement, without prior placement of EVD. The outcome was assessed at the end of 3 months using Glasgow Outcome Score. Results: The mean age of patients was 3.25 years (range, 3 months–14 years). Forty (80%) patients were in Grade III, and 10 (20%) were in Grade IV. Good outcome and mortality in Grade IV patients were 30% (3/10) and 10% (1/10), respectively; whereas in Grade III patients, it was 77.5% (31/40) and 0% (0/40), respectively. Twenty-five patients presented with focal neurological deficit at admission, which persisted in only 14 patients at 3 months follow-up. VPS-related complications were observed in 5 (10%) patients. Conclusions: This study demonstrates that direct VPS surgery could improve the outcome of Grades III and IV TBMH. Despite poor grade at admission, 80% patients in Grade III and 20% patients in Grade IV had a good outcome at 3 months follow-up. Direct VPS placement is a safe and effective option even in a patient in Grades III and IV grade TBMH with a low complication rate.

Introduction: Encephaloceles in relation to the nose are rare lesions affecting the skull base. In the pediatric population, majority are congenital lesions manifesting as nasal masses requiring surgical intervention. Materials and Methods: A retrospective study of 6 consecutive patients below 12 years of age with intranasal meningoencephalocele treated by endonasal endoscopic approach at our tertiary centre was done. The follow up period ranged from 6 months to 2 years. A detailed clinical and radiological evaluation of these cases was done. Endonasal endoscopic repair (gasket seal/fat plug) was carried out in all cases. Results: Out of 6 patients, 4 patients had post-traumatic and rest 2 cases had congenital meningo-encephaloceles. All patients were asymptomatic in post-operative follow up period. One patient had minor complication of nasal alar collapse due to intra-operative adherence of encephalocele to cartilaginous framework. Conclusion: Transnasal endoscopic repair of anterior skull base meningoencephalocele is a minimally invasive single stage surgery, and has advantage in terms of lesser hospital stay, cost of treatment, and better cosmesis. The repair technique should be tailored to the size of defect to provide a water-tight seal for better outcome.

Background: Infections of the central nervous system (CNS) are common and routinely encountered. Our aim was to evaluate the neuroimaging features of the various infections of the CNS so as to differentiate them from tumoral, vascular, and other entities that warrant a different line of therapy. Aims: Our aim was to analyze the biochemical and magnetic resonance imaging (MRI) features in CNS infections. Settings and Design: This was a longitudinal, prospective study over a period of 1½ years. Subjects and Methods: We studied cerebrospinal fluid (CSF) findings and MRI patterns in 27 patients of 0–20 years age group with clinical features of CNS infections. MRI was performed on MAGNETOM Avanto 18 Channel 1.5 Tesla MR machine by Siemens India Ltd. The MRI protocol consisted of diffusion-weighted and apparent diffusion coefficient imaging, turbo spin echo T2-weighted, spin echo T1-weighted, fluid-attenuated inversion recovery (FLAIR), and gradient-echo in axial, FLAIR in coronal, and T2-weighted in sagittal plane. Contrast-enhanced T1-weighted sequence and MR spectroscopy were done whenever indicated. Results and Conclusions: We found that most of the children belong to 1–10 years age group. Fungal infections were uncommon, mean CSF adenosine deaminase values specific for tuberculosis and mean CSF glucose-lowered in pyogenic. Hemorrhagic involvement of thalamus with/without basal ganglia and brainstem involvement may indicate Japanese encephalitis or dengue encephalitis. Diffusion restriction or hemorrhage in not expected in the brainstem afflicted lesions of rabies. Congenital cytomegalovirus can cause cortical malformations. T1 hyperintensities with diffusion restriction may represent viral encephalitis. Lesions of acute disseminated encephalomyelitis (ADEM) may mimic viral encephalitis. Leptomeningeal enhancement is predominant in pyogenic meningitis. Basilar meningitis in the presence of tuberculomas is highly sensitive and specific for tuberculosis.

Eosinophilic granuloma (EG) represents a local form of Langerhans cell histiocytosis that occurs mostly in children. It usually presents with a gradually enlarging painless skull mass, and rarely presents a rapid clinical deterioration. This 7-year-old boy who was diagnosed with EG, based on a magnetic resonance imaging scan, after presenting with a painless right parietal swelling of 7-week duration. Three weeks prior his scheduled surgery, he presented to the emergency department with a 2-day history of sudden increased of the subcutaneous swelling associated with a headache, vomiting, and decreased the level of consciousness; there was no history of trauma. Brain computed tomography revealed a right parietal bone defect with large subgaleal and extradural hematoma. He underwent emergent surgical excision of the skull lesion and evacuation of the hematoma. Histopathological examination confirmed the diagnosis of EG. We aim to raise the awareness of physicians of this rare spontaneous hemorrhagic complication of EG and review the literature.

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig disease, is a chronic degenerative neurologic disease and is characterized by the selective involvement of the motor system. Usually, patients present with upper motor neuron (UMN) and lower motor neuron compromise. Degeneration of the UMN in the cerebral cortex is one of the main pathologic changes in ALS. These changes usually affect corticospinal tracts leading to degeneration of the fibers which show characteristic hyperintensities along the tracts leading to the “wine glass sign.” Patients with ALS usually present in the sixth decade of life; presentation in pediatric age in the form of juvenile ALS being rare.

Extra nodal presentation of Non Hodgkins Lymphoma (NHL) is a rare entity, and data available about the NHL that primarily involves of middle ear and mastoid is limited. We report a case of diffuse large B cell lymphoma (DLBCL), in a 2 year 8 month old boy, who developed otalgia and facial palsy. Computed tomography revealed a mass in the left mastoid. Mastoid exploration and histopathological examination revealed DLBCL. This case highlights the importance of considering malignant lymphoma as one of the differential diagnosis in persistent otitis media and/facial palsy.

Choroid plexus tumors are relatively rare primary brain tumors that arise from the epithelial differentiated tissue, majority being well-differentiated papillomas. In adults, fourth ventricle and in children, lateral ventricles are the most common site of these tumors. We reported a case of choroid plexus papilloma in the temporal horn of lateral ventricle in a female child who presented with the uncommon symptoms of sudden intraventricular hemorrhage and multiple episodes of seizure without symptoms of raised intracranial tension.

Supratentorial atypical teratoid rhabdoid tumors (AT/RTs) of infancy and childhood are rare, highly malignant neoplasms, most common in the first 2 years of life. In spite of multiple treatment regimens consisting of surgical resection, radiation therapy, and multi-agent chemotherapy, the prognosis is very poor. The majority of these tumors are located in the cerebellum, cerebellopontine angle, pineal gland, spinal cord, and the suprasellar region; supratentorial location is relatively uncommon, and the intraventricular location is extremely rare. We report a rare case of AT/RT arising in the lateral ventricle in a 4-year-old patient.

Sjogren-Larsson syndrome is an autosomal recessive disorder characterized by defective activity of fatty aldehyde dehydrogenase. It presents as a triad of congenital ichthyosis, spastic diplegia, and mental retardation. The pathology behind this syndrome is the failure of degradation of fatty aldehydes. This case is presented for its rarity.

Guillain–Barré syndrome (GBS) is an acute inflammatory polyneuropathy characterized by rapidly progressive symmetric weakness, and areflexia. Areflexia is necessary for the diagnosis of GBS. However, recently there have been studies of hyperreflexia with axonal neuropathy form of GBS. We report a 14-year-old boy with GBS, who presented with hyperreflexia and bilateral papillitis. To the best of our knowledge, this is the first pediatric patient presenting with papillitis and hyperreflexia with acute motor and sensory axonal neuropathy form of GBS.

Malabsorption syndrome (MAS) is a common condition in India. In Indian adults, tropical sprue and celiac disease are leading causes of MAS. Sometimes, the diagnosis of MAS may pose a challenge due to the varied signs and symptoms. We present a case of MAS in a young female, whose presenting symptoms were mainly neurological. She was successfully treated under regular follow-up for the past 6 years without any symptoms.

Tuberculous myelitis usually involves thoracic and only rarely, distal cord. Longitudinal lesions more than three spinal segments long in tuberculosis (TB) are usually due to intramedullary tuberculomas and not infectious myelitis. We report a 17-year-old male with acute myelitis from D7 to conus medullaris, diffuse spinal meningitis, subdural and epidural abscesses, normal vertebrae, intervertebral discs, and brain imaging. Cerebrospinal fluid (CSF) showed raised proteins, lymphocytosis, hypoglycorrhagia, and positive TB-polymerase chain reaction. Chest X-ray was normal, and sputum was negative for acid-fast Bacilli. Chest computed tomography (CT) revealed endobronchial TB. The patient was successfully treated with antitubercular drugs and steroids. In endemic areas, a high index of suspicion should be kept for TB in patients with myelitis, especially those with spinal abscesses and a suggestive CSF report. In selected cases, there may be a role of CT scan inspite of normal X-ray.

Dermatitis artefacta, a self-inflicted intentional dermatosis is a very rare diagnosis in childhood. In a large proportion, the underlying psychiatric disorders go unidentified due to lack of collaboration between dermatologist and psychiatrist. The underlying psychological reasons for childhood dermatitis artefacta include emotional distress and interpersonal conflicts. A multitude of psychosocial factors interact to precipitate this disorder. Here, we report a child with dermatitis artefacta who was diagnosed with attention deficit hyperactivity disorder during psychiatric evaluation. Parental expectations and sibling rivalry were further increasing the stress of the index child. Appropriate diagnosis and management lead to treatment compliance and functional improvement in the child.

Warburg syndrome is a rare disorder characterized by microcephaly, microcornea, congenital cataract, developmental delay, and hypogonadism. Here, we report two siblings from India who presented with developmental delay, microcornea, microphthalmia, and bilateral congenital cataracts, born to the third-degree consanguineously married couple. Both children had hypoplasia of corpus callosum. In this report, we aim to highlight and compare clinical features of these two cases with previously reported cases.