Young-onset Amyotrophic Lateral Sclerosis with Rare Skin Manifestation: Case Report and Literature Review.

Amyotrophic lateral sclerosis (ALS) is one of the most common motor neuron diseases (MND), which presents as muscle weakness, atrophy, spasticity, and, in extreme cases, may result in death due to respiratory failure. ALS has been reported with dermatological conditions such as bullous pemphigoid and decreased collagen. Hyperpigmentation usually occurs due to underlying adrenal or metabolic disorder, but no case of hyperpigmentation has been associated with MND. We report a case of a 25-year-old man who presented with signs of young-onset ALS (progressive weakness of both upper limbs) with hyperpigmentation of limbs. The patient did not have any other underlying etiology, which could have led to the development of hyperpigmentation Biopsy was negative for polymyositis and dermatomyositis. The patient was counseled about the nature of the disease and was advised regular follow-ups.

To Determine the Surgical Outcome of Anterior Cervical Corpectomy and Fusion without Fixation for Ossification of Posterior Longitudinal Ligament.

AIMS: The purpose of our study is to evaluate the surgical outcome in patients undergoing anterior cervical corpectomy without fixation with plates and screws for the treatment of ossification of posterior longitudinal ligament (OPLL). SUBJECTS AND METHODS: The type of study was case series and was conducted from January 2015 to December 2015 for 1-year duration at the Department of Neurosurgery at a Tertiary Care hospital in Karachi, Pakistan. A total of n = 20 patients (16 men and 4 women; mean age of 57.45 ± 6.4 years [range: 45-68 years]) were included after thorough clinical history and physical examination. Neurological evaluation was done using the Japanese Orthopedic Association (JOA) scoring system. The pre- and post-operative JOA scores were used to calculate recovery rate (RR) of the patients. Radiographic assessment was done using various modalities such as X-ray, computed tomography scan, and magnetic resonance imaging. Surgical outcome and complications were studied and the data were analyzed using SPSS 21. RESULTS: After the uniform follow-up period of 12 months, mean JOA scores improved from 9.1 ± 1.37 preoperatively to 14.3 ± 1.69 postoperatively and mean RR was 67.01 ± 15.5%. All the patients showed successful osseous fusion while one patient did not. Two patients developed cerebrospinal fluid leakage, one patient developed recurrent laryngeal nerve palsy, and one expired due to iatrogenic neurological deterioration. CONCLUSION: Anterior cervical corpectomy without fixation with plates and screws is an effective surgical procedure for the treatment of OPLL (for up to three cervical levels of OPLL). It gives good neurological recovery with fewer postoperative complications.

Improvement In Symptoms Of Gaucher's Disease By Enzyme Replacement Therapy.

Gaucher's disease is the most common lysosomal storage disease which occurs due to a deficiency of the enzyme glucocerebrosidase. This enzyme deficiency leads to accumulation of glucocerebrosidase in the cells of macrophage-monocyte system. It is inherited as an autosomal recessive mutation and has three clinical subtypes. The disease presents with anaemia, hepatosplenomegaly, skeletal disorders and organ dysfunction. We present the case of an 18- month old male child who had presented to Civil Hospital, Karachi with fever, progressive pallor, abdominal distention for 6 months and was diagnosed as a case of type 1 Gaucher's disease on the basis of low leukocyte glucocerebrosidase activity, raised plasma chitotriosidase and the presence of Gaucher cells on bone marrow biopsy. The disease was treated with Intravenous replacement of the enzyme Imiglucerase (cerezyme) and the patient was followed. An informed Consent of the parents was taken prior to the writing of the manuscript.

Comparison of Phenytoin versus Levetiracetam in Early Seizure Prophylaxis after Traumatic Brain Injury, at a Tertiary Care Hospital in Karachi, Pakistan.

AIMS: The aim of the study was to compare the efficacy of phenytoin and levetiracetam for seizure prophylaxis in patients with severe traumatic brain injury (TBI). SUBJECTS AND METHODS: A randomized controlled trial was conducted over a period of 6 months, at a tertiary health care center in Karachi, Pakistan. Patients with TBI were divided into two groups. Patients in Group A were given phenytoin, whereas Group B patients received levetiracetam. The first dose of the drugs was given within 24 h of injury and continued for 7 days. Data were collected using a predesigned pro forma. All the patients who were in a state of persistent coma, had altered mental status, or had clinical signs of seizures underwent a 1-h electroencephalographic (EEG) recording to observe the seizures, the first EEG was done on the 1st day posttrauma and a second one was done on day 7 of drug use, both the EEGs were compared for changes. We also analyzed the patients according to their duration of antiepileptic drug therapy, length of hospital stay, and complications during therapy. RESULTS: One hundred and forty (117 males and 23 females) patients who presented with TBI having a mean age of 29.48 ± 16.24 years were part of the study. The most prevalent cause of brain injury was road traffic accidents in 72.85% patients. There was no significant relationship between the antiepileptic drug used with the initial EEG (P = 0.313) and seizure activity (P = 0.502). However, a significant correlation of the antiepileptic drug used was found with EEG (P = 0.002) and seizure activity (P = 0.014) on follow-up. Patients who took levetiracetam had decreased the incidence of abnormal EEG and seizure activity on follow-up. There was not any correlation between GCS both initially (P = 0.845) and on follow-up (P = 0.104) with the antiepileptic drug used. CONCLUSION: The incidence of abnormal EEGs and seizure activity in patients with TBI is the same for both levetiracetam and phenytoin for the initial 7 days post-TBI; however, the incidence of seizures is lower for patients who used levetiracetam on the subsequent follow-up.