diagnostic dilemma of progressive muscular atrophy

Progressive muscle atrophy is a rare subtype of motor neuron disease that affects only the lower motor neurons and presents as asymmetrical rapidly progressive muscle weakness, atrophy and normal sensations. The diagnostic electrophysiological findings are denervation potentials in three out of four body segments [bulbar, cervical, thoracic and lumbosacral]. The disease is fatal and the management is supportive. We present the report of a 45-year-old female patient who presented with unilateral foot drop and rapidly progressed to profound weakness in muscles of all limbs, neck and back along with dysarthria and dysphagia. She had been operated twice for suspected cervical and lumbosacral intervertebral disc herniations and ultimately guided in right direction after muscle biopsy, nerve conduction studies and electromyography

Spinal cord injury without radiographic abnormalities [SCIWORA] in a preschool child: a case report

A 3, 1/2 year old boy presented at the Soldiers' Family Rehabilitation Unit, Armed Forces Institute of Rehabilitation Medicine, Rawalpindi with 2, 1/2 years' history of weakness and numbness in legs and loss of control over bowel and bladder following run over by a vehicle. At presentation, the child was unable to stand without support with power of 2/5 in iliopsoas, 3/5 in extensor hallucis longus and 0/5 in ankle plantar flexors on both sides. The power in quadriceps was0/5 on right and 2/5 on left side. The knee and ankle jerks were absent bilaterally. Sensations to both light touch and pin prick were impaired below T9 level on both sides. Perianal sensations were intact but voluntary anal contraction was absent. He was categorized as a case of Spinal Cord Injury T9 as classified by American Spinal Injury Association [ASIA] with impairment Scale C. X-Rays and Magnetic Resonance Imaging Scans were normal. These investigations aided by relevant clinical features qualified him as a case of Spinal Cord Injury without Radiographic Abnormalities

Penile amputation due to improvised explosive device [IED] blast injury in a pakistani soldier

Penile amputation is a catastrophe and the goal should be to restore adequate mass, sensation and functionality of penis considering penile prosthesis where necessary. A case of a 25 year soldier who had penile amputation due to improvised explosive device blast injury is reported

Quality of referrals for nerve conduction studies and electromyography to a tertiary care rehabilitation center

To perform an audit of quality of referrals for Electrodiagnosis [EDX]/Nerve conduction studies and Electromyography [NCS/EMG] to a tertiary care rehabilitation center. A detailed referral proforma covering all the prerequisites for EDX studies had already been distributed among the dependent Defense Forces hospitals. The data was taken from that proformas and the patients were asked if the referring physician had explained them about the test and if they had gone through the instructions. Frequencies and percentages were calculated for provision of clinical information, query, reading of instructions by the patients and punctuality of the patients. The reporting time of the patient, if they were late than the appointment time was calculated in minutes. Physician's explanation about the procedure to the patient and provision of information about precautions and contraindications was also included Of the total 130 registered patients, 85 were males and 45 females. 86 [66.2%] referrals were made by consultants, 42 [32.3%] by residents and 2 [1.5%] by General Practitioners. 41 out of total were from consultants and residents in Physical Medicine and rehabilitation followed by 22 from Orthopedics. Regarding institutions, largest number of referrals were from Combined Military Hospital Rawalpindi [43] and Armed Forces Institute of Rehabilitation medicine [40]. By large, the clinicians neither provided clinical notes [62%] nor mentioned the query and provisional diagnosis [53%]. Majority [92%] did not provide information about the test to the patient and did not cue the patient about any precaution to be taken [92%].The patients on the other hand generally read the instructions provided in the request pro forma [54%] and reported well in time for the appointment of procedure [86%]. An inappropriate practice in referring patients uncritically to the EDX studies. Adopting good referral practices seemed crucial for meaningful usefulness of NCS/EMG. Instructions for proper referrals were sent to the concerned hospitals and a repeat audit was planned after one year

Congenital insensitivity to pain with anhidrosis: a case report from Pakistan and literature review

Congenital insensitivity to pain with anhidrosis is a rare disease with an autosomal recessive inheritance. The patients present in early childhood with frequent episodes of fever and absence of sweating. Painless fractures, bruises and cuts are quite common. Defective lacrimation and mental retardation are strongly diagnostic. Repeated injuries often lead to a reduced life expectancy. The diagnosis depends on relevant clinical features, abnormal sensory response on nerve conduction studies and nerve biopsy showing loss of the unmyelinated and small myelinated fibers. We report here a 5 year old female child who presented for electrodiagnostic evaluation and was found to have this disease