A middle age woman who had frequent migraines was admitted with memory loss following severe unilateral headache, restlessness and confusion. Investigations including haematology, biochemistry, cerebrospinal fluid analysis serology and imaging were normal. As she had frequent migraines with a history of ophthalmoplegic migraine, acute confusional migraine was thought of as a possibility. The patient responded dramatically to intravenous sodium valproate. We report this case to emphasise that acute confusional migraine, a rare variant of migraine, is occasionally encountered in adults and prompt recognition will lead to appropriate management.
Propriospinal myoclonus (PSM) is a rare type of movement disorder in which the myoclonic jerks are present or intensified in supine position. Arising from a thoracic or abdominal generator, the movements propagate rostrocaudally as per the spinospinal conduction velocity. Routine neuroimaging and electrophysiology being normal in most instances, it is frequently interpreted as psychogenic. We present a case of PSM which will throw ample light on the pathophysiology, approach and dilemmas in treatment.
New onset refractory status epilepticus (NORSE) is a relatively novel concept used to describe a cohort of previously healthy young adults mostly women presenting with denovo refractory status epilepticus which has a miserable impact on the outcome. Various infectious and non-infectious causes have been considered to be responsible for this dreaded syndrome; however, many a times the exact cause is not identified. As therapy with antiepileptic and anaesthetic drugs is not so successful, identifying and treating the exact cause could improve the outcome. Here the authors describe a woman who presented with NORSE. Investigations confirmed the diagnosis of herpes simplex encephalitis (HSE) and she responded drastically to acyclovir along with complete control of seizures. In this case, NORSE was the presenting feature of HSE and the refractoriness of her seizures was terminated only after treating the exact cause, that is, encephalitis.
Reflex or stimulus-sensitive epilepsies are uncommon epileptic syndromes triggered by exogenous-specific sensory stimulus or endogenous various mental activities. Gelastic–dacrystic seizures are rare epileptic manifestations characterised by ictal laughter and crying. Gelastic–dacrystic seizures are commonly caused by hypothalamic hamartoma but rarely described due to cortical dysplasia, lesions of frontal and temporal lobes, tumours and vascular malformations. We report a young woman who presented with somatosensory-evoked gelastic–dacrystic seizures. This patient had a positive history of perinatal insult substantiated by MRI findings. Hypoxic–ischaemic encephalopathy as the cause of gelastic–dacrystic seizures has not been reported so far in the literature.
Thyroid-associated orbitopathy (TAO) is a self-limiting auto-immune condition usually associated with Grave's disease. It is characterised by ocular pain, eyelid swelling, chemosis, proptosis and keratopathy. As the mechanism for ophthamoplegia and optic neuropathy is the orbital swelling leading to mechanical restriction of ocular muscles and compression of optic nerve, one expects proptosis rather than ptosis in TAO. We describe a case of a young adult woman who presented with acute onset restriction of movement along with partial ptosis and severe diminution of vision in left eye. The MRI of orbit revealed significant swelling of recti along with signal alteration consistent with TAO. The radio-isotope thyroid scan revealed thyroiditis, and thyroid peroxidase (TPO) antibody was significantly high; hence, the diagnosis of Hashimoto thyroiditis was considered. A course of intravenous methylprednisolone followed by oral steroid was administered, which produced marked improvement in vision and extraocular movement.
Vitamin B12 deficiency has a wide spectrum of clinical presentation with a variety of neurological symptoms and signs. As a result, many patients lack classic features of advanced severe deficiency. Early diagnosis and treatment are crucial in order to prevent the irreversible damage to the nervous system. We describe a 25-year-old man, who presented with predominant sensory symptoms without any signs on clinical evaluation. His serum vitamin B12 levels were low and neuroimaging revealed myelopathy. The patient was treated promptly with cyanocobalamin injections, which lead to a rapid resolution of symptoms and radiological abnormalities.
Wilson disease is a rare heredodegenerative inborn error of copper metabolism with varied neuropsychiatric, hepatic and other manifestations. Here we report a case of Wilson disease with neurological manifestations in a 7-year-old girl with concurrent asymptomatic liver involvement and characteristic radiological findings of signal intensity alterations in bilateral striata and thalami along with changes in central pons too like central pontine myelinolysis (CPM), which is of rare occurrence.
Hepatitis B virus infection leads to multisystem manifestations owing to involvement of kidney, skin, vasculature, haematopoietic and nervous system. The hepatitis B infection can cause neuropathy either to vasculitis associated with polyarteritis nodosa or immune-mediated neural damage. In this submission, we report a young woman, who presented with mononeuritis multiplex and painful ulcerations as the first manifestation of chronic hepatitis B virus infection. The antiviral therapy along with steroids led to remarkable recovery. The clinical settings of hepatitis B virus infection should not be ignored in the presentation of mononeuritis multiplex with ulcers, although the commonest cause is leprosy in the Indian sub-continent.
Tuberculosis continues to remain a significant public health problem in developing nations, causing substantial morbidity and mortality. Central nervous system (CNS) tuberculosis is frequently observed in endemic zones of tuberculosis including India. The emergence of infections like HIV and malnutrition ruined the public health measures to restrain tuberculosis in developing countries. The incidence of intraspinal tuberculomas is reported to be 0.2–5% among CNS tuberculomas. To date, only a few cases have been reported of mixed intraspinal and intracranial tuberculomas. The clinical outcome in CNS disseminated tuberculomas is not well described in the literature. With this view, we report a case of a 25-year-old woman who presented with neck pain, triparesis and bladder incontinence, which finally proved to be a case of multiple cerebral and spinal tuberculomas. The antitubercular treatment with steroids and other supportive measures resulted in good recovery.
Wilson's disease (WD) has varied phenotypic presentations. Here we report the case of a 16-year-old boy who presented with a history of multiple pathological fractures, severe joint deformities, hepatic dysfunction, cognitive decline and limb dystonia. On examination, the patient had pinched out facies, pallor and leukonychia totalis. Bilateral Kayser Fleischer (KF) ring was present. Musculoskeletal examination revealed pectus carinatum, bilateral genu valgus and gun-stock deformity of the left elbow joint. Splenomegaly and moderate ascites were present. Neurological examination revealed mild rigidity and intermittent episodes of dystonic posturing of all four limbs. On this basis a diagnosis of WD with dystonia with cirrhosis of liver with portal hypertension with renal tubular acidosis with renal rickets was thought likely. Investigations confirmed the diagnosis. The patient was started on treatment but he did not improve. He suffered aspiration pneumonia during his hospital stay and succumbed to the illness.
Mirror movements are simultaneous, involuntary, identical movements occurring during contralateral voluntary movements. These movements are considered as soft neurologic signs seen uncommonly in clinical practice. The mirror movements are described in various neurological disorders which include parkinsonism, cranio veretebral junction anamolies, and hemiplegic cerebral palsy. These movements are intriguing and can pose significant disability. However, no such observation regarding mirror movements in progressive hemifacial atrophy have been reported previously. We are reporting a teenage girl suffering from progressive hemifacial atrophy and epilepsy with demonstrable mirror movements in hand.
Hemifacial atrophy; mirror movements; parry romberg syndrome
Hansen's disease is on the verge of being eliminated from India and often missed by clinicians due to low index of suspicion. We present an unusual case in which greater auricular nerve thickening masqueraded as enlarged lymph node in the neck. The patient was referred for fine needle aspiration cytology, which revealed epithelioid cell granulomas suggestive of Hansen's disease. Further clinical examination and investigations including the skin biopsy confirmed the disease, highlighting the role of pathologist in the management of such unusual presentation of a common disease.
Epithelioid cell granuloma; fine needle aspiration cytology; greater auricular nerve; Hansen's disease
A 51-year-old male presented with blackish discoloration of nails of 10 months duration. Examination revealed black dystrophic left thumb finger nail. Detailed examination showed a mass under the dystrophic nail. Hutchinson sign was positive. Histopathology revealed characteristic features of melanoma. A detailed evaluation revealed no features of local or distant metastasis. The entire lesion was then removed surgically along with disarticulation at the interphalangeal joint. Resection-free margin was confirmed. This case is being reported for the rare occurrence of subungual melanoma in the Indian population and also for presentation with a long history of lesion with no evidence of metastasis.
Hutchinson's; melanoma; metastasis; subungual
Corticosteroids have been used in the treatment of Bell's palsy and several other postinfectious neurological conditions. We hypothesized that administration of a single dose of intravenous (IV) methylprednisolone might be an effective alternative to oral prednisolone.
Materials and Methods:
In this open label, randomized trial, patients with acute Bell's palsy were randomized into two groups. One group received single dose (500 mg) of IV methylprednisolone while the other group received 10 days of oral prednisone. Outcome was assessed at 1 and 3 months with House–Brackmann scale.
At 3 months, 93 (79.48%) patients had completely recovered. IV methylprednisolone and oral prednisolone groups had similar recovery rates (80% vs. 78.33%, P > 0.05). Patients with Grade 2 and 3 recovered completely. In patients with Grade 6, the recovery rate was 20%. A better outcome was observed if corticosteroids were administered within 3 days of onset of palsy.
Intravenous methylprednisolone and oral prednisolone showed equivalent benefit in patients with acute Bell's palsy.
Corticosteroids; facial nerve; methylprednisolone
Vision impairment is one of the devastating complications of central nervous system tuberculosis (CNS TB). Optic atrophy is a sequelae of various forms of CNS TB which, ultimately, is responsible for vision impairment. It is usually the secondary optic atrophy which occurs in CNS TB. In this case report, we present two cases of CNS tuberculosis developing primary optic atrophy, which is infrequently reported. The relevant pathophysiology and causes of vision impairment in CNS TB are also discussed.
Creutzfeldt-Jakob disease (CJD) belongs to a group of prion diseases that may be caused by the abnormal folding of proteins called prion proteins. The ‘Heidenhain variant’ is a subclass of patients with CJD, who present with isolated visual symptoms at the onset without any cognitive decline. Here we report such a case of an elderly man presenting with progressive diminution of vision, forgetfulness, abnormal behaviour, myoclonic jerks and akinetic mutism since the last 5 months. On clinical examination, lead pipe rigidity was present in all four limbs, and plantars were bilateral extensors. In view of rapidly progressive dementia associated with myoclonus, a possibility of CJD was entertained. As visual symptoms preceded dementia, hence the Heidenhain variant was strongly suspected. MRI of the brain revealed cortical ribboning, and EEG showed periodic triphasic waveforms with background slowing. The patient succumbed to the illness within 1 month of hospitalisation.
An 8-year-old girl presented to the neurology department with a complaint of insidious onset of left-sided ptosis and restricted elevation of the left eye. A CT scan orbit and brain revealed a ring-enhancing lesion in the levator palpebral superioris (LPS) and superior rectus (SR) muscle complex of the left eye and left parietal and right temporal region. She was started on steroid, followed by albendazole with improvement. The LPS/SR complex is the least common site of involvement among extraocular muscles in ocular cysticercosis. Specially, with brain neurocysticercosis (NCC), it is extremely rare. We report an unusual association of multiple brain NCC with ocular cysticercosis involving LPS and SR muscle.
In India, Atlantoaxial dislocation (AAD) is the commonest skeletal craniovertebral junction (CVJ) anomaly, followed by occipitalisation of atlas and basilar invagination. The usual presentation is progressive neurological deficit (76–95% cases) involving the high cervical cord, lower brainstem and cranial nerves. The association between vertebro-basilar insufficiency and skeletal CVJ anomalies is well recognised and angiographic abnormalities of the vertebrobasilar arteries and their branches have been reported; however, initial presentation of CVJ anomaly as thalamic syndrome due to posterior circulation stroke is extremely rare. Here, we report one such rare case of thalamic syndrome as the initial presentation of CVJ anomaly with AAD.
Replenishing melanocytes by autologous melanocytes selectively in vitiliginous macules is a novel and promising treatment. With expertise in culturing autologous melanocytes, it has now become possible to treat larger recipient areas with smaller skin samples. To determine the relative efficacy of cultured versus non cultured melanocyte transfer in the management of stable vitiligo.
The melanocytes were harvested as an autologous melanocyte rich cell suspension from a donor split thickness graft. Cultured or non cultured melanocytes were then transplanted to the recipient area that had been superficially dermabraded. 100 patches of vitiligo in patients reporting to this hospital were randomly allocated into 2 groups to receive either of the interventions.
An excellent response was seen in 62.17% cases with the autologous melanocyte rich cell suspension technique and in 52% with the melanocyte culture technique.
Autologous melanocyte transplantation can be an effective form of surgical treatment in stable but recalcitrant lesions of vitiligo. Large areas of skin can be covered with a smaller donor skin using melanocyte culture technique; however culture method is more time consuming, and a labour intensive process, requiring state of the art equipments with a sterile lab setup.
Autologous melanocyte transplantation; Melanocyte rich cell suspension; Melanocyte culture; Vitiligo
Cerebral hemiatrophy is a common childhood disease. It clinically manifests with seizures, hemiparesis and mental retardation.
Materials and Methods:
In this prospective study, previously untreated patients with seizures and cerebral hemiatrophy were recruited. Cerebral hemiatrophy was diagnosed on the basis of hemispheric ratio. Patients with acquired hemiconvulsion, hemiplegia, and epilepsy (HHE) syndrome were included in group A. Group B included patients with congenital HHE syndrome. Patients were followed up for 6 months for seizure recurrence.
Out of 42 patients 26 were in group A and 16 were in group B. After 6 months, there was significant reduction in seizure frequency (P < 0.0001) in both the groups. At least 50% reduction in seizure frequency was noted in all the patients. Complete seizure freedom was observed in 15 (35.7%) patients. Seizure recurrences were significantly higher (P = 0.008) in group A. On univariate analysis, predictors of seizure recurrences were history of febrile seizures (P = 0.013), hippocampal sclerosis (P = 0.001), thalamic atrophy (P = 0.001), basal ganglia atrophy (P = 0.001), cerebellar atrophy (P = 0.01), ventricular dilatation (P = 0.001), epileptiform discharges at presentation (P = 0.023), complex partial seizures (P = 0.006) and status epilepticus (P = 0.02). On multivariate analysis, hemispheric ratio was the only significant factor for seizure recurrence.
Patients with congenital hemiatrophy had better seizure control than that in patients with HHE syndrome.
Cerebral hemiatrophy; childhood epilepsies; epilepsy; epilepsy syndrome; hemiconvulsion; hemiplegia; febrile seizures; seizure
An 18-year-old lady had presented to us with insidious onset progressive gait ataxia of 5-year duration. Her sister had similar complaints and type 1 diabetes mellitus. Examination revealed, gait ataxia, impaired tandem gait, babinski sign and severe swaying on testing for Romberg's sign. All deep tendon reflexes were exaggerated. On investigations, there was no evidence for diabetes mellitus or nutritional deficiencies. Electrocardiogram and echocardiogram were normal. Magnetic spine resonance showed marked atrophy of cervical cord with normal cerebellum. The genetic testing disclosed expanded GAA repeat length on both alleles of FXN gene. The GAA repeat length on both alleles was much less than mean length observed in Friedreich's ataxia. This case highlights how strongly the genotype influences the neurological and systemic manifestations as well as severity of disease in Friedreich's ataxia.
Severe cutaneous drug reactions are one of the commonest medical challenges presenting to an emergency room in any hospital. The manifestations range from maculopapular rash to severe systemic symptoms like renal failure and cardiovascular compromise. Toxic epidermal necrolysis, erythroderma, drug rash with eosinophilia and systemic symptoms, acute generalised exanthematous pustulosis and drug induced vasculitis are the common cutaneous drug reactions which can have severe morbidity and even mortality. Careful history taking of the lag period after drug intake and associated symptoms, along with detailed examination of the skin, mucosa and various systems, help in early diagnosis of these reactions. Early stoppage of the incriminating drug, specific therapy including corticosteroids, cyclosporine and intravenous immunoglobulin depending on the case along with supportive therapy and local measures help in salvaging most patients. An overview of these important cutaneous drug reactions along with their management is being reviewed in this article.
Cutaneous drug reaction; Toxic epidermal necrolysis; Erythroderma; DRESS; Vasculitis