ABSTRACT
@#The incidence of neurenteric cyst (NC) is rare amongst spine tumors. It is most often asymptomatic but may present with sensory and motor symptoms. When associated with thoracic vertebra fusion it is not reported before, this complicates the placement of pedicle screw during posterior instrumentation. Herein, we report a case of thoracic spinal neurenteric cyst in a 40-year-old man that presents with chronic back pain, left lower limb weakness and numbness. Elective excision of NC over T6-T7 with laminectomy and multilevel posterior instrumentation was successfully performed with significant improvement of the symptoms. Neurenteric cyst is a rare spinal cord lesion which may cause permanent neurological sequalae. Complete surgical excision with spine fixation in this case provides good long-term outcome.
ABSTRACT
Paciente masculino de 12 años procedente de Coclé sin antecedentes personales conocidos que ingresa al Hospital del Niño con historia de más o menos 6 meses de evolución por cuadro de obstrucción nasal derecha inicialmente seguido de sensación de cuerpo extraño y desde hace 4 meses con epistaxis, debilidad y dolor facial derecho. Examen físico Fc: 105 x, Fr: 15 x, P.A. 100/ 5 mmHg , palidez de tegumentos, sin otros hallazgos positivos.
ABSTRACT
BACKGROUND & OBJECTIVES: Distal upper limb spinal muscular atrophy (SMA) is an uncommon segmental variant of SMA. The condition is usually sporadic, affects males more often than females, and manifests late in the second decade of life, remaining confined to the upper limbs. We examined four patients with this form of SMA in order to determine if they carried homozygous deletion mutations in the survival motor neuron (SMN) or neuronal apoptosis inhibitory protein (NAIP) genes that underlie proximal SMA. METHODS: The four patients with distal upper limb SMA were analysed clinically, electrophysiologically and biochemically. Genomic DNA from each of the patients was analysed by restriction enzyme digestion of polymerase chain reaction (PCR) amplification products, as well single stranded conformation polymorphism (SSCP), to detect deletion events of selected exons of the SMN and NAIP genes. RESULTS: The clinical phenotype of the four patients, together with the biochemical and electrophysiological studies, confirmed a diagnosis of distal upper limb SMA. The molecular studies excluded homozygous deletion mutations in these patients as causative of their phenotype. INTERPRETATION & CONCLUSION: The genetic component underlying distal upper limb SMA appears not to involve mutations that are common in proximal SMA patients. It is possible that genes other than SMN and NAIP may be involved, while somatic mosaicism of SMN gene mutations could be implicated in the segmental nature of distal upper limb SMA.