Malikhenderson7197

An 8-month-old girl presented with fever, restricted left eye movements and increasing proptosis for 8 days. On examination she had left orbital cellulitis, relative afferent pupillary defect and ophthalmoplegia. Contrast-enhanced magnetic resonance imaging (MRI) brain with orbits revealed orbital apex syndrome (OAS) with cavernous sinus thrombosis. Orbital apex is located posteriorly in the orbit and characterised by involvement of cranial nerves II, III, IV, VI and ophthalmic division of Vth nerve. Selleckchem PF-3644022 The close clinico-anatomical differentials of OAS are cavernous sinus and superior orbital fissure syndrome. The current case was treated successfully with intravenous antibiotics and anticoagulation therapy.Osteoporosis pseudoglioma syndrome is characterized by intellectual disability, osteoporosis of bones and eye abnormalities. We report, a 14-year-old female child presented with walking difficulty with frequent falls followed by deformity of left leg. On examination, bilateral micropthalmia, microcornea, corneal clouding, vitreo-retinal detachment, and atrophic irises. She had deformity of left lower limb, anterior bowing of both tibia, lax skin, hyperextensible joints. Skeletal survey showed severe osteoporosis with fracture of left femur and fish mouth vertebra. She had normal serum calcium, phosphorus, and alkaline phosphatase levels. Targeted next generation testing revealed homozygous pathogenic variant in exon 6 at c.1096G>A/p.V366 M and confirmed by Sanger sequencing. Early diagnosis and treatment are helpful in preventing further fractures and osteoporosis.Late infantile metachromatic leukodystrophy is an autosomal recessive disorder caused by a deficiency in the enzyme activity of Aryl sulfatase-A. The classical presentation is characterized by gait disturbance, frequent fall, toe walking, impaired swallowing and feeding, seizures, progressive neuroregression, decorticate posture and early death. Here we report a toddler who presented with frequent falls and cognitive regression. Magnetic resonance imaging (MRI) showed a striking leopard skin pattern. Recognition of this pattern on MRI in proper clinical context can serve as a clue to the diagnosis.Xanthogranuloma of the choroid plexus is a rare, usually incidentally detected and commonly bilateral intraventricular lesion found in the pediatric population. Its characteristic imaging features are described.A 1-month-old girl child, who was found to have hydrocephalus on prenatal ultrasound, was postnatally evaluated with magnetic resonance imaging (MRI) of brain, which showed two classical findings of septo-optic dysplasia (SOD), namely optic nerve hypoplasia and absent septum pellucidum. In addition, the patient was found to have cerebellar hemiagenesis.A 13-year-old girl with infantile-onset self-resolving epilepsy and developmental delay had an unremarkable workup, including normal brain magnetic resonance imaging (MRI) and chromosomal microarray. During adolescence, she presented with features of early-onset parkinsonism gait dyspraxia, freezing during walking, cogwheel rigidity in both upper extremities, and left arm dystonia. Repeat brain MRI showed iron deposition on the substantia nigra (SN) and basal ganglia, with hyperintense halo sign around a central linear hypointensity within the SN on the T1 imaging sequence. Whole-exome sequencing with trio revealed de novo heterozygote mutation in WDR45 to confirm the diagnosis of beta-propeller protein-associated neurodegeneration (BPAN). BPAN is a rare neurodegenerative with brain iron accumulation disorder with the pathognomonic halo sign. Preferential iron deposition over the SN compared to globus pallidus can distinguish this condition from other iron storage disorders. BPAN does not cause the radiologic eye of the tiger sign seen in other forms of iron storage disorders. Other types of childhood-onset parkinsonian disorders, such as PINK1-related Parkinson disease and Parkin-type Parkinson disease, do not have iron storage in the brain. This report describes a case of early-onset parkinsonism secondary to a mutation in WDR45. It underscores the importance of brain MRI to differentiate this condition from other childhood-onset parkinsonism and also other brain iron accumulation disorders. This report also shows iron deposition over the pituitary as a novel site of iron deposition in BPAN and emphasizes the presence of peri-dentate white matter volume loss and hyperintensity, which is another key radiologic abnormality associated with BPAN.A 15-year-old boy diagnosed as case of cervical kyphosis, atlantoaxial dislocation, and hypofibrinogenemia was posted for corrective surgery under general anesthesia. His preoperative plasma fibrinogen levels and other coagulation profile were deranged. He was diagnosed with type 1 congenital fibrinogen abnormality, that is, hypofibrinogenemia. Preoperative blood products including cryoprecipitates were transfused to correct fibrinogen levels and coagulation profile. Cryoprecipitate was transfused at the dose of 1 bag per 10kg body weight per day. During intraoperative period, blood products were transfused following blood loss of 1100mL. Postoperatively the repeat laboratory investigations after 20 h revealed normal PF levels (211 mg/dL) with normal coagulation profile. He was discharged five days later with the uncomplicated postoperative course.We present a rare case of dengue hemorrhagic fever presenting with severe myocardial dysfunction along with intracranial hemorrhage and coagulopathy. It warrants every clinician to be vigilant in diagnosis and management so as to prevent life-threatening morbidity and mortality.Ischemic stroke is a clinical condition resulting from a decrease in blood flow to the brain. It is rare in children, especially more rare in infants. The symptoms in the patients vary according to the age of the patient and the affected vessel. Diagnosis of pediatric stroke is not simple and requires neuroimaging reference. If the diagnosis is delayed and the treatment is not started as soon as possible, the probability of disability or death of the patient increases. In this report, we present a 6-month-old girl with hemiplegia, who was admitted to the emergency department with a complaint of not able to move her left side and who was diagnosed as ischemic stroke. Our case is the youngest ischemic stroke detected in infant period that we know of in the literature. In this case report, we aimed to remind that ischemic stroke is one of the causes of neurological symptoms occurring during infant period.Optic neuritis has many mimics. Careful history and fundus examination are paramount in making the correct diagnosis. Here we present a case of bilateral vision loss in a 15-year-old male who subsequently developed hypertensive crises. Subsequent evaluation showed pheochromocytoma and genetic screening confirmed Von Hippel-Lindau disease.Pain is a recognized, but rare manifestation of epileptic seizures. Pain associated with seizures can be severe and disabling. Ictal pain is usually associated with paresthesia, thermal sensations, or somatognostic disturbance. If localized, paroxysmal pain is the sole manifestation, seizure may be often overlooked as a cause for pain, leading to unnecessary investigations and erroneous treatment, resulting in the prolongation of suffering. We hereby report the case of a 6-year-old boy, whose initial manifestation was multiple episodes of localized, intense, disabling paroxysms of pain over multiple body sites. He was diagnosed to have focal unaware seizures, and was started on antiepileptic drugs, leading to complete resolution of symptoms.Craniopharyngiomas are benign tumors of neuroepithelial origin, believed to arise from remnants of Rathke's pouch. Their proximity to vital structures of the visual pathway and hypothalamus leads to both neurological and endocrinological complications. Endocrinal complications are seen in 40%-87% of the affected and can develop at presentation or post-surgery and radiotherapy. Central diabetes insipidus (CDI) is a common endocrinopathy associated with craniopharyngioma, but rarely a presenting symptom before or after surgery. CDI most commonly presents with polyuria and polydipsia. Here, we report a postoperative child with craniopharyngioma where recurrent urinary tract infection and hydronephrosis were initial clues to diagnose CDI.The development of secondary neoplasms following therapeutic cranial irradiation is rare and quite often lethal. Meningiomas, sarcomas, and high-grade gliomas are the most common tumors that manifest as a result of radiation therapy. We report the case of an 11-year-old child who presented with symptoms of supratentorial space-occupying lesion 7 years after curative surgery and cranial irradiation for a posterior fossa ependymoma. Magnetic resonance imaging of the brain revealed a right-sided temporoparietal dural-based contrast-enhancing lesion with evidence of overlying bone and skin involvement. The histological report of ependymoma from the previous surgery led us to suspect that we were dealing with a recurrence until the histopathology of the second surgery revealed highly malignant osteosarcoma. The child recovered fully and underwent chemotherapy, but ultimately succumbed to the disease. We report this case to highlight the importance of recognizing these neoplasms and to review its management.Dengue fever is a common viral infection in the tropical areas, especially in India. The clinical manifestations of dengue infection are broad-spectrum, ranging from asymptomatic to life-threatening dengue shock syndrome. Usually, the dengue virus does not cause neurologic manifestations, but recently this has been documented in some cases. However, there is increasing evidence for dengue viral neurotropism, suggesting there may be an element of direct encephalitis in some dengue patients. Here we are reporting a case of dengue encephalitis in a 2-year-old female child from rural India who was presented with a history of fever, altered sensorium, and seizures. Blood test results of dengue immunoglobulin M (IgM) antibodies were positive. Cerebrospinal fluid analysis showed lymphocytic pleocytosis with elevated proteins and normal glucose. Neuroimaging was normal. In addition, other causes of encephalitis were ruled out by appropriate laboratory investigations. Our case highlights that dengue encephalitis may present even in the absence of neuroimaging findings with classical clinical signs. Hence, dengue encephalitis should be considered in the differential diagnosis of fever with altered sensorium and seizures, especially in areas where dengue fever is endemic.We describe a girl with syndromic autism spectrum disorder (ASD), who at the end of the medical workup proved affected by a succinic semialdehyde dehydrogenase (SSADH) deficiency, a rare autosomal-recessive disorder of degradation of the γ-aminobutyric acid (GABA), that is, the most important central nervous system inhibitory neurotransmitter. The diagnosis of SSADH deficiency was made using a next-generation sequencing (NGS) multigene panel for neurological disorders and was confirmed by urinary organic acid analysis. Compared to the classic description of SSADH deficiency, our patient presented a less severe picture. In fact, she had no epilepsy, and her neuromotor signs were soft, and over time they became less evident. This case report emphasizes the importance of considering in a patient with syndromic ASD, the possible diagnosis of SSADH deficiency, even when all its typical signs are not present. Nowadays, the use of NGS multigene panels could facilitate the etiological diagnosis in individuals with syndromic ASD.