Childhood onset homozygous recessive GDAP1 (p.Pro231Leu) mutation in a 9-year-old puerto rican pediatric female with axonal Charcot-Marie-Tooth disease: A case report.

Charcot-Marie-Tooth disease (CMT) is a progressive hereditary neuromuscular neuropathy with pathology in the myelin sheath or the axon. CMT caused by mutations in the Ganglioside-induced differentiation associated protein 1 (GDAP1) gene has been described by a spectrum of phenotypic presentations. GDAP1 is a mitochondrial protein responsible for protecting neuronal bodies from oxidative stress.

Familial Hyperckemia and Calf Hypertrophy Secondary to a Caveolin-3 Mutation.

Idiopathic hyperckemia has been described as persistent serum creatine kinase elevation at least 1.5 times the upper limit of normal in individuals with otherwise normal laboratory findings and neurological examination. This type of hyperckemia encompasses both sporadic and familial cases, which have been found to be asymptomatic or subclinical, presenting with mild symptoms, such as myalgias or cramps.

Central cord syndrome from blast injury after gunshot wound to the spine: a case report and a review of the literature.

Introduction: Central Cord Syndrome (CCS) is the most common of the spinal cord injury syndromes. Few cases have been presented with gunshot wound (GSW) as a cause of a central cord syndrome, and none, to our knowledge, has been presented without any evidence of central canal bullet/bone fragments.

Case Presentation: A 27-year-old male suffered two close-range gunshot wounds, one to the left neck and one to the left shoulder.

Traumatic central cord syndrome after blunt cervical trauma: a pediatric case report.

Introduction: Traumatic central cord syndrome (CCS) is the most frequently encountered incomplete spinal cord injury (SCI). The patient presents weakness, which is usually greater in the upper extremities than in the lower extremities, secondary to damage to the cervical spinal cord and anatomic distribution of the corticospinal tracts. CCS is seen commonly after a hyperextension mechanism in older patients with spondylotic changes.

Prevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto Rico.

Background: Duchenne and Becker Muscular Dystrophy (DMD and BMD, respectively), are common forms of inherited muscle disease. Information regarding the epidemiology of these conditions, including genotype, is still sparse.

Objective: To establish the prevalence and genetic profile of DMD and BMD in Puerto Rico.

Spontaneous Bilateral Vertebral Artery Dissection During a Basketball Game: A Case Report.

Spontaneous vertebral artery dissection accounts for 2% of all ischemic strokes and can occur as a consequence of sports events. We present an unusual case of spontaneous bilateral vertebral artery dissection in a 30-year-old male patient during a basketball game. He developed severe dysphagia, right hemiparesis, and balance dysfunction.

Limb-Girdle Muscular Dystrophy Type 2A Resulting From c.C479G and c.G1818A Mutations in the Calpain-3 Gene.

Limb-Girdle Muscular Dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized by progressive weakness of proximal muscles. Here, we describe a patient with clinical features consistent with LGMD2A who harbors 2 rare changes in the CAPN3 gene sequence of unknown clinical significance. Mechanisms by which these 2 mutations could affect the protein are discussed.

New mutation in periaxin gene causing Charcot Marie Tooth disease in a Puerto Rican young male.

Charcot-Marie-Tooth (CMT) disease is an inherited peripheral neuropathy caused by mutations in more than 30 different genes. One of the genes encodes for periaxin (PRX) protein, which is required for the maintenance of peripheral nerve myelin. Individuals with PRX gene mutations have been described to present early-onset, autosomal recessive, demyelinating CMT disease or CMT4F subtype.

Grisel's syndrome: an unusual cause of torticollis.

Purpose: The objective of this paper is to present a case series of patients with diagnosis of torticollis due to Grisel's syndrome and, in doing so, raise awareness of an unusual condition that could be fatal. A review of the literature is presented regarding diagnosis and treatment.

Methods: Case series of three patients that were 7, 10, and 12 years old with history of tonsillitis or neck surgery consulted to the service of Rehabilitation Medicine.

An unusual complication in a 9-year-old patient with hereditary multiple osteochondromatosis.

This case report describes the presentation of a 9-year-old boy with a history of hereditary multiple osteochondromatosis who presented to the outpatient setting with progressive difficulty in ambulation. Magnetic resonance imaging of the spine revealed a thoracic spinal tumor, which was surgically removed. After surgery, the boy's ambulation and spasticity/contractures improved.

Anaerobic power and muscle strength in human immunodeficiency virus-positive preadolescents.

Objective: To determine the anaerobic power and muscle strength of preadolescents with human immunodeficiency virus (HIV).

Design: Cross-sectional design.

Setting: Human performance laboratory at the University District Hospital at the Puerto Rico Medical Center.

Fibrotendinous band causing neurogenic Thoracic Outlet Syndrome in adolescent with bilateral cervical ribs.

Thoracic Outlet Syndrome (TOS) describes a variety of symptoms caused by the compression of the neurovascular structures in the cervicoaxillary region as they leave the thorax toward the upper limbs. Causes of TOS are vascular and neurogenic, with neurogenic symptoms being the most common presentation (95% of patients). Symptoms related to neurogenic TOS include intrinsic hand muscle and thenar region atrophy and weakness, as well as medial hand and forearm numbness, which are all suggestive of lower trunk involvement.