Veerendrakumar Mustare

Episodic neurological dysfunction in hereditary peripheral neuropathy

Episodic transient neurological symptoms are an important set of problems presenting to a neurologist in his routine practice. Occasionally, detailed clinical history including past and family history supplemented with focused examination can bring out a rare cause for such symptoms. We describe in this report in a young male presenting with episodic focal neurological dysfunction, with family history of similar episodes in mother and brother. Examination showed features of pes cavus and peripheral neuropathy for which patient was asymptomatic. Mother and brother were established cases of hereditary neuropathy. Imaging on multiple occasions showed reversible white matter abnormalities. Clinical suspicion of X-linked Charcot-Marie-Tooth disease type 1 (CMT1X) was confirmed with detection of mutation in Gap Junction B1 (GJB1) gene, which codes for connexin 32 protein (c.425G>A; p.R142Q hemizygous mutation). Though this mutation has been already reported in CMTX patients, it has not been associated with transient neurological dysfunctions. This is probably the first reported case of CMTX patient with transient neurological dysfunction from India, whose family members had similar episodes.

Profile of Patients with Craniovertebral Junction Anomalies with Posterior Circulation Strokes

BACKGROUND Craniovertebral junction (CVJ) anomalies are rare and treatable risk factors for posterior circulation strokes (PCSs). Most of the literature comprises case reports and from varied specialities. METHODS Chart review of patients with PCS with CVJ anomalies admitted in a single tertiary stroke care unit. We describe their clinical profile, investigative findings, and therapeutic outcomes. RESULTS We saw 7 patients (6 males, mean age 20.1 ± 12.0 years), all previously undiagnosed during the 6-year period. Three patients had a combination of atlantoaxial dislocation (AAD), basilar invagination (BI) and Klippel-Feil anomalies, 2 patients had os odontoideum with AAD, and 1 patient each had isolated AAD and BI. Clinically, they presented with first or recurrent episodes of stroke with neck pain. Examination revealed noticeable skeletal markers and neurologic deficits involving the arterial territory. Routine stroke risk factors were absent. X-ray of CVJ was abnormal and diagnostic in all the patients. Other imaging modalities had their own contributions for identifying associated defects, demonstrating pathophysiology, and management of these patients. Acute care with anticoagulation and supportive measures helped in recovery of all of them. Posterior fusion was done in 4 patients, and 2 patients are awaiting the surgery. During follow-up all patients have improved and none had recurrences. CONCLUSIONS In case of a young patient with PCS (first/recurrent) in the absence of routine risk factors for stroke, careful physical examination and imaging with basic X-ray may help in the diagnosis CVJ abnormalities, which may be effectively managed by a multidisciplinary team to prevent recurrences.

Internal jugular, subclavian and brachiocephalic vein thrombosis associated with cerebral venous sinus thrombosis.

Sir, A 23‐year‐old lady presented on day‐12 of postpartum with 3 days history of headache and two episodes of generalized tonic‐clonic seizures. Examination revealed bilateral papilledema and mild left‐sided hemiparesis. Magnetic resonance imaging and venography showed [Figure 1] extensive thrombosis of superior sagital, bilateral lateral, and straight sinus with right thalamic hyperintensities. She was treated with anticoagulation and anti epileptics and supportive measures. Investigations showed low hemoglobin and hyperhomocysteinemia as risk factors apart from puerperal state. On day‐10 of admission, she developed left‐sided neck pain and swelling of left upper limb. Computerized tomographic venography [Figure 2] showed thrombosis of left internal jugular (IJV),

Unilateral papilledema in cerebral venous sinus thrombosis

In the majority of patients with raised intracranial pressure, the papilledema is bilateral. Unilateral papilledema is rare in conditions causing intracranial hypertension, and it has been described in Foster–Kennedy syndrome and in some cases of idiopathic intracranial hypertension. It has never been reported in cerebral venous thrombosis. We report a young lady presenting with features of subacute onset of headache with seizures, on evaluation she had superior sagittal and bilateral lateral sinus thrombosis. The risk factors found on evaluation were Vitamin B12 deficiency and hyperhomocysteinemia. On optic fundus examination, she had swollen optic disc on the right side with normal fundus on the left side, confirmed with the orbital ultrasound B-scan and optic coherence tomography. Her magnetic resonance imaging showed features of raised intracranial pressure with thrombosis of the superior sagittal and bilateral lateral sinus thrombosis. She was treated with anticoagulation (heparin followed by oral anticoagulants), antiedema measures, and vitamin supplementation for hyperhomocysteinemia. She improved over time and was asymptomatic during follow-up. We discuss the possible mechanisms described in the literature for unilateral papilledema. This report highlights the need for carefully performing bilateral fundus examination so as not to miss the vision or life-threatening causes of a headache.

Treatment-related fluctuations in guillain barre syndrome and the conundrum of additional cycles of plasmapheresis

Introduction: In Guillain Barre syndrome (GBS), worsening of weakness or disability after initial period of recovery or stabilization is described as treatment-related fluctuations (TRF). Aim: This study aims to describe the clinical characteristics and outcome of six patients with GBS and TRF. Patients and Methods: Six patients with GBS fulfilling NINCDS criteria, evaluated at a tertiary care university hospital during 2008–2017, were diagnosed to have TRF. They form the basis of this report. Results: All patients were men and their mean age was 40 years. At presentation, mean duration of illness was 15 days; the illness had plateaued in three and progressive in other three patients. Two of the four patients had variant GBS. Initially, five patients were treated with large volume plasmapheresis (LVPP) and one patient with methyl prednisolone. At 17–28 days after disease onset, three patients developed new neurologic deficits (bilateral facial paresis in two; paralytic ileus in one). Other three patients with worsening of limb weakness (medical research council sum score of >5) and disability (Hughes disability grade by ≥1) fulfilled Kleywegs criteria for TRF. All the six patients were treated with the completion of five cycles or additional cycles of LVPP. Conclusion: Awareness about TRF is essential for correct diagnosis and management of patients with GBS.

Unilateral herpes zoster ophthalmicus with bilateral cerebral infarcts in human immunodeficiency virus seropositive patient

Ischemic stroke is a recognized complication of herpes zoster ophthalmicus. Arterial involvement is usually seen on the side of the rash. It is thought to be due to vessel inflammation by the virus, which travels from the trigeminal ganglion. Few case reports of bilateral and distant site of zoster lesions with stroke in the brain have been described. These reports suggest possibility of contiguous vascular, cerebrospinal fluid (CSF) or hematogenous spread of the virus from the ganglion to the cerebral blood vessels. Therapeutically acyclovir, anticoagulation, and steroids have been used in the treatment of the zoster associated with stroke. We describe a case of immunocompromised patient with ipsilateral zoster ophthalmicus with bilateral anterior circulation strokes, who was treated with above measures and made successful recovery. This report also raises/supports possible CSF/vascular/hematogenous spread of the virus from the ganglion to involve cerebral blood vessels leading to the stroke.