We report a rare case of neurodegeneration with brain iron accumulation (NBIA) presented with episodic inspiratory stridor. A 10-year-old boy presented with 3-year history of gradually progressive spastic gait and generalized dystonia (involving all four limbs, neck, jaw, and speech). MRI brain showed “Eye of Tiger” sign. He recently developed severe inspiratory stridor associated with almost gasping respiration. Direct video laryngoscopy showed paradoxical vocal cord closure during inspiration. He was treated with EMG-guided botulinum toxin-A injection given into bilateral thyroarytenoid muscles, resulting in dramatic response with complete disappearance of the stridor within a week. The effect lasted 18 months.
Adductor laryngeal breathing dystonia; botulinum toxin; stridor
Wegener's granulomatosis (WG) is a systemic necrotizing vasculitis that affects the small blood vessels. It mainly affects the upper and lower respiratory tract and kidneys. Central nervous system (CNS) involvement is rare, and has been reported only in about 8% of cases during the course of illness. Initial presentation with neurologic affection, particularly chronic hypertrophic meningitis is very unusual. We report the case of a 34 year old male who presented with chronic hypertrophic meningitis and multiple cranial nerve involvement as the initial manifestation, without respiratory and renal symptoms. This case highlights the difficulties in diagnosing a rare disease with rarer presentation, and at the same time illustrates that Wegener's granulomatosis should be considered in the differential diagnosis of chronic meningitis.
Chronic meningitis; cranial neuropathies; Wegener's granulomatosis
Rhino-orbitocerebral mucormycosis (ROCM) is a fungal infection commonly affecting individuals with diabetes and those in immunocompromised states. However, infections caused by Apophysomyces elegans can involve immunocompetent individuals. The invasion pattern of cerebral mucormycosis is somewhat predictable and may occur by direct invasion or hematogenous spread. Perineural spread of the disease is unusual. Here, we report the first case of perineural extension of ROCM caused by A. elegans along the trigeminal nerve in a 25-year-old immunocompetent, nondiabetic individual.
Magnetic resonance imaging; perineural spread; rhino-orbitocerebral mucormycosis; sinusitis; trigeminal nerve
With increasing usage of thrombolysis in the treatment of acute ischemic strokes within 4.5- hour window, it is becoming more important to recognize stroke mimics. Though the incidence of stroke mimics being thrombolysed is less than 3%, it is essential to diagnose them so as to avoid wrong thrombolytic treatment which carries potential complications of bleeding. We describe the case of a 17 year old girl with acute lymphoblastic leukemia, who developed stroke like episodes on two consecutive challenges with a chemotherapeutic regime which included intravenous and intrathecal methotrexate. She had MRI changes consistent with acute ischemic stroke on both occasions. Her deficits recovered completely and spontaneously, as did the MRI changes. She did not have any further episodes when methotrexate was excluded from the chemotherapeutic regime.
Leucoencephalopathy; methotrexate; stroke mimic
Brain malformations such as agenesis and dysgenesis of corpus callosum, pituitary hypoplasia, hypothalamic hamartoma, mesial temporal periventricular heterotopia, and abnormally oriented and misshapen hippocampi have been described with SOX2 gene mutations. A neocortical malformation is presented here in association with SOX2 deletion that over time underwent spontaneous evolution and decrease in size.
Cortical malformation; SOX2; anophthalmia
Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation, and spastic diplegia. More than 70 mutations in ALDH3A2 have been discovered in SLS patients. We diagnosed two brothers age of 12 and 20 years with characteristic features of this rare syndrome. Magnetic resonance imaging showed demyelinating disease in both of them. We described a novel homozygous, c. 835 T > A (p.Y279N) mutation in exon 6 in two patients.
Ichthyosis; mental retardation; mutation; spastic diplegia
Apraxia of speech (AOS) is a rare, but well-defined motor speech disorder. It is characterized by irregular articulatory errors, attempts of self-correction and persistent prosodic abnormalities. Similar to aphasia, AOS is also localized to the dominant cerebral hemisphere. We report a case of Crossed Aphasia with AOS in a 48-year-old right-handed man due to an ischemic infarct in right cerebral hemisphere.
Apraxia of speech; crossed aphasia; crossed apraxia of speech; right-handed
Spinal arteriovenous fistulas are rare entities. They often present with congestive myelopathy but are infrequently diagnosed as the cause of the patients’ symptoms. Only one such case has been described previously in Indian literature. We describe one such case who presented to us after a gap of 3 years since symptom onset and following a failed laminectomy where the cause was later diagnosed to be an intradural fistula in the filum terminale fed by the anterior spinal artery and review the available literature.
Anterior spinal artery; congestive myelopathy; filum terminale; intradural arteriovenous fistula
Non-Hodgkin's lymphoma of T-cell types are rare neoplasms. Central nervous system metastasis is unusual. We are reporting a patient with peripheral T-cell lymphoma unspecified who had extra nodal metastasis into the brain that manifested with extrapyramidal dysfunction. The clinical presentation was exceptional in that the course was indolent and patient had no overt extra neural manifestations of malignancy for nearly 3 years after the onset of Parkinsonism. Striking brain imaging late in the disease supported by pathological findings enabled the diagnosis of this rare condition.
Brain; hemorrhagic secondaries; neoplastic parkinsonism; peripheral T-cell lymphoma unspecified metastasis
Lumbar puncture in the presence of an intracranial tumor with raised intracranial pressure is known to have catastrophic consequences due to herniation of intracranial contents through the tentorial hiatus or foramen magnum. There are relatively few case reports about the same sequence of events when lumbar puncture is performed below the level of a complete spinal block. The mechanism of such deterioration is also subject to conjecture as the spinal cord (unlike the uncus or cerebellar tonsils) is tethered by the dentate ligament and roots on either side, and is hence less mobile. We present one such case of spinal coning and review the available literature.
Cervical neurofibroma; lumbar puncture; spinal coning
Hashimoto encephalopathy remains a Rubik's cube for the present generation of clinical research. Myriad presentations have been noted, and observations recorded in few subgroups of patients have gone on only to be trashed by a second group of patients with a completely different clinical profile. Steroids have been traditionally held to be the treatment for this condition, but long-term side effects associated with it limits its use. Although multiple drugs have been tried, yet there exists no data for their long-term efficacy in maintaining remission. No radiological findings have been consistently associated with this condition. We report the use of azathioprine in maintaining long-term remission in one such patient with Hashimoto encephalopathy and the presence of lactate peak in magnetic resonance spectroscopy of the patient, which showed dramatic regression with institution of immunosuppression.
Anti-thyreoperoxidase; azathioprine; encephalopathy; lactate peak; methylprednisolone; MRI-spectroscopy