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
Central sleep apnea is a period of at least 10 s without airflow, during which no ventilatory effort is present. Most of the central apneas occur in Non-Rapid eye movement (NREM) sleep. Central apnea occuring in Rapid eye movement (REM) sleep is extremely rare. We present our patient who had a diagnosis of obstructive sleep apnea in another sleep center since 2003. His Auto Continuous Positive Airway Pressure (CPAP) machine was disrupted so he admitted to our center to renew his machine and for daytime sleepiness while using his machine. The polysomnography revealed central apneas ending with respiratory arousals and periodic leg movements in rapid eye movement (REM) stage. We found no cause for central apneas. The patient benefited from servo ventilator therapy. We present this case as an unusual form of central apnea with the review of the literatures. Even the patients diagnosed as obstructive sleep apnea should be analyzed carefully. The diagnosis and the therapeutic approach may change in the favor of the patient.
Central apnea; periodic leg movements; REM sleep
Anti N Methyl D Aspartate receptor immune encephalitis (Anti NMDARE) is a recently defined, under-recognized and often misdiagnosed disease, which typically occurs in young females and may be associated with an underlying tumor, usually ovarian teratoma. If diagnosed early, initiation of immunotherapy and tumor removal (if present) may result in recovery. We report a case of a 17 years old girl with Anti NMDARE who was initially misdiagnosed as Functional psychosis, Neuroleptic Malignant Syndrome and Sepsis syndrome. To the best of our knowledge, this is only the second case of anti NMDARE being reported from India. This case report underscores the need for a greater awareness of this entity across multiple specialties, e.g., general medicine, psychiatry and neurology, to ensure a heightened diagnostic suspicion, which can lead to timely diagnosis and adequate therapy of this treatable disease.
Immune encephalitis; N-Methyl-D-Aspartate; psychosis; neuroleptic malignant syndrome
Spinal cord infarction (SCI) often remains undiagnosed due to infrequent occurrence and lack of established diagnostic procedures. The unique pattern of blood supply explains the heterogeneity of clinical presentation. We present three cases of SCI to highlight the varied spectrum of clinicoradiological findings. The first patient had posterior spinal artery infarction, and spine imaging showed infarction of adjacent vertebral body, which is usually rare. The second patient had anterior spinal artery infarction and the cANCA titers were elevated. The third patient had a pure motor quadriparesis. Initial imaging did not show any cord infarction, but signal changes were noted on serial imaging. Fibrocartilagenous embolism (FCE) seems the most likely etiology in the first and third cases. A high index of clinical suspicion is necessary for prompt diagnosis. Sensitivity of the initial magnetic resonance imaging remains limited, necessitating serial follow-up scans. Infarction of the adjacent vertebral body is a useful confirmatory sign. Fat suppression images can delineate the marrow signal changes better. Elderly patients with vascular risk factors and degenerative discs need to avoid mechanical triggers that predispose to FCE. Younger patients with SCI will need evaluation for cardioembolic source and vasculitis.
Anterior spinal artery; fibrocartilagenous embolism; magnetic resonance imaging; posterior spinal artery; spinal cord infarction
Congenital myasthenic syndromes (CMS) are frequently misdiagnosed due to their wide clinical heterogeneity. Molecular defects in various end-plate associated proteins are being identified. Better understanding of the molecular pathogenesis and genotype-phenotype correlations can help evolve newer therapeutic targets. We present a report of two siblings with familial limb girdle myasthenia who showed significant objective clinical improvement after initiation of terbutaline. The possible mechanism of action and utility of terbutaline in the setting of CMS are described. Terbutaline is a potential treatment option in certain subtypes of CMS refractory to conventional medicines. However, long-term follow-up is required to determine the overall efficacy and safety profile.
Congenital myasthenic syndromes; Dok-7; muscle specific tyrosine kinase; quantitative myasthenia gravis severity score; terbutaline
Silent thyroiditis is a rare cause of thyrotoxic periodic paralysis. The objective was to present a case of silent thyroiditis presenting as periodic paralysis. A 23-year-old man presented with recurrent acute flaccid predominantly proximal weakness of all four limbs. He had a similar episode 3 weeks back. On examination he was found to have hypokalemia secondary to thyrotoxicosis. Clinically there were no features of thyrotoxicosis or thyroiditis. He was initially treated with intravenous and later oral potassium supplementation and propranolol. At 8 weeks of follow-up his thyroid profile became normal and his propranolol was stopped. He had no further recurrence of paralysis. He was diagnosed as a case silent thyroiditis presenting as thyrotoxic periodic paralysis. In cases of recurrent or acute flaccid muscle paralysis, it is important to suspect thyrotoxicosis, even if asymptomatic. Definitive treatment of thyrotoxicosis prevents recurrence.
Hypokalemia; oral potassium; periodic paralysis; thyroiditis; thyrotoxicosis
Nummular headache (NH) is a newly categorized headache disorder characterized by a consistent clinicographics in each attack. Currently, it is considered as a primary headache disorder due to epicranial neuralgia but the pathomechanism is still unknown. We report a woman, whose recurrent NH subsided after trans-sphenoidal surgery for her pituitary oncocytoma. The recovery of NH in this patient encourages the central mechanism for NH occurrence. After a review of literature concerning, NH and intracranial secondaries we propose that central NH is a referral pain from pain-sensitive structures, such as meninges, superimposing by pre-existing lower pain threshold or pain modulation.
Headache; nummular headache; oncocytoma; pituitary; referred pain
To bring to light the greatly hazardous effects of the use of flue less gas geysers in the domestic setting. Over a period of two years (2008 to 2010) twenty six cases were documented as presenting with unexplained neurological events while bathing in an ill ventilated bathroom with a functional flue less gas geyser. The cases were mainly of three distinct prototypes namely seizure like episodes seen in 11 patients, carbon monoxide intoxication in 13 patients with near cardiac arrest in 4, and as a precipitating factor for epilepsy as seen in 2 cases. Out of the 13 cases presenting as carbon monoxide intoxication 4 had subtle cognitive defects and 2 developed early Parkinsonian features on follow up. To increase awareness regarding gas geyser induced epilepsy and associated carbon monoxide intoxication, both of which are entirely preventable conditions. We also wish to emphasize the importance of stringent and universal implementation of gas geyser usage and installation laws.
Carbon monoxide; epilepsy; gas geyser
Methanol is a highly toxic alcohol resembling ethanol in smell and taste. Methanol poisoning is a lethal form of poisoning that can cause severe metabolic acidosis, visual disturbances, and neurological deficit. Brain lesions typically described in methanol toxicity are in the form of hemorrhagic and non-hemorrhagic necrosis of the basal ganglia and sub-cortical white matter. To our knowledge, lesions in the parietal, temporal, or frontal areas of cerebrum and cerebellar hemispheres have been rarely reported so far. We herewith report this rare presentation.
Basal ganglia; intoxication; methanol; necrosis; putamen
This is a case report of suicidal ingestion of chlorfenapyr, presenting with neurological complications after a latent period of more than a week, and rapidly progressing to death within days of symptoms. Chlorfenapyr is a moderately hazardous pesticide according to World Health Organization toxicity classification, and kills target organism by depriving it of energy through interference with oxidative phosphorylation at mitochondrial level. A pro-pesticide, chlorfenapyr takes time to convert to its active form and either this active form or a toxic metabolite causes delayed neurological symptoms. It causes significant neurotoxicity in rat models. This case report provides for the first time from India (second worldwide), clinical and “radiological evidence” (magnetic resonance imaging showing demyelinating/oedematous changes) of “chlorfenapyr neurotoxicity in humans.” It also highlights the “latent period” between ingestion and onset of fatal manifestations. Earlier, similar case reports of human deaths with delayed onset neurological symptoms, due to chlorfenapyr poisoning have been reported, from Japan, Columbia, and Korea.
Chlorfenapyr; pesticides; poisoning; suicides
We report three cases of Vitamin B12 deficiency with symmetrical posterior spinal cord lesions and discuss the differential diagnosis, some of which are not well known. Because the degree of resolution of the clinical symptoms in subacute combined degeneration depends on early detection, MRI findings should not be missed.
Spinal MRI; symmetrical posterior spinal cord lesions; vitamin B12 deficiency
Lemierre’s Syndrome (LS) is a potentially life-threatening condition, characterized by clinical or radiologic evidence of internal jugular vein thrombosis following an oropharyngeal infection, most commonly by Fusobacterium necrophorum. A high index of suspicion and early recognition is important for successful management and to prevent systemic complications like multiorgan failure with extremely high morbidity, prolonged hospitalization and, not uncommonly, death. We are reporting a rare case of LS that was complicated with internal jugular vein and cavernous sinus thrombosis along with lung metastatic lesions, which was diagnosed and treated at our institute.
Cavernous sinus thrombosis; lemierre’s syndrome; pulmonary infiltrates
VogtKoyanagi-Harada (VKH) is a rare syndrome affecting tissues with melanocytes. The possibility that VKH syndrome has an autoimmune pathogenesis is supported by the high frequency of human leukocyte antigen-DR4 commonly associated with other autoimmune diseases. Eyes are the main affected organ, resulting in blindness. Brain disease as a late onset event is extremely rare. Here, we are reporting a 57-year-old woman with previously diagnosed VKH syndrome, presenting with a late-onset brain encephalopathy. She was treated with corticosteroids and discharged from hospital with good general condition.
Autoimmunity; encephalopathy; human leukocyte antigen (HLA); Vogt-Koyanagi-Harada syndrome
Allgrove Syndrome or triple A syndrome is a rare familial multisystem disorder characterized by achalasia, alacrima and adrenal insufficiency. The objective was to describe a case of 4A syndrome where autonomic dysfunction was the presenting feature. A 22-year-old male presented with erectile dysfunction and loss of spontaneous morning erections for six months. He was having nocturnal diarrhea and recurrent postural dizziness for three months. He was found to have hyperpigmentation at pressure points, postural hypotension and other features of autonomic dysfunction. Laboratory investigations and imaging studies revealed hypoadrenalism, achalasia, alacrima and peripheral neuropathy. Autonomic neuropathy-related features persisted even after correction of hypoadrenalism. Based on clinical features and investigation he was diagnosed as a case of 4A syndrome presenting with autonomic dysfunction. Allgrove or 4A syndrome should be considered as a rare differential diagnosis of someone presenting with features of autonomic neuropathy.
Alacrima; autonomic; achalasia; neuropathy
Ataxia, although rare, can be a symptom of many debilitating movement disorders. Hereditary ataxias are one subset of this condition and manifest when there is a genetic abnormality involved. Ataxia oculomotor apraxia type 1 (AOA1), an autosomal recessive ataxia, results from a mutation on the aprataxin gene (APTX). We characterized a novel homozygous deletion mutation (IVS4-12delT) on the APTX gene in a 14-year-old male born to consanguineous parents. This case report emphasizes the importance of investigating and increasing awareness of novel genetic mutations in order to help diagnose and further classify hereditary ataxias.
AOA1; aprataxin gene; hereditary ataxia; mutation; oculomotor apraxia type 1