Blake's pouch cyst and Werdnig-Hoffmann disease: Report of a new association and review of the literature.

BACKGROUND: We report a case of a neonate with proximal spinal muscular atrophy (SMA) type 1 (also known as Werdnig-Hoffmann disease or severe infantile acute SMA) associated with a Blake's pouch cyst; a malformation that is currently classified within the spectrum of Dandy-Walker complex. The association of the two conditions has not been previously reported in the English literature. A comprehensive review of the pertinent literature is presented. CASE DESCRIPTION: A male neonate was noted to have paucity of movement of the four limbs with difficulty of breathing and poor feeding soon after birth. Respiratory distress with tachypnea, necessitated endotracheal intubation and mechanical ventilation. Pregnancy was uneventful except for decreased fetal movements reported by the mother during the third trimester. Neurological examination revealed generalized hypotonia with decreased muscle power of all limbs, nonelicitable deep tendon jerks, and occasional tongue fasciculations. Molecular genetic evaluation revealed a homozygous deletion of both exons 7 and 8 of the survival motor neuron 1 (SMN1) gene, and exon 5 of the neuronal apoptosis inhibitory protein (NAIP) gene on the long arm of chromosome 5 consistent with Werdnig-Hoffmann disease (SMA type 1). At the age of 5 months, a full anterior fontanelle and abnormal increase of the occipito-frontal circumference were noted. Computed tomographic (CT) scan and magnetic resonance imaging (MRI) of the brain revealed a tetraventricular hydrocephalus and features of Blake's pouch cyst of the fourth ventricle. CONCLUSIONS: This case represents a previously unreported association of Blake's pouch cyst and SMA type 1.

Computed tomographic evaluation of C5 root exit foramen in patients with cervical spondylotic myelopathy.

BACKGROUND: Narrowing of the intervertebral foramen for C5 root and a larger superior articular process in myelopathic patients with postlaminoplasty motor dominant C5 radiculopathy has been reported. We investigated whether the C4-5 foraminal dimensions and surface area in patients with cervical spondylotic myelopathy are universally smaller than the intervertebral foramina at other cervical levels. METHODS: The study population consisted of 44 consecutive patients (sex: 24 males and 20 females), averaging 55.7 years of age (range 42-84) years who presented with clinical features suggestive of cervical spondylotic myelopathy. Using computed tomography (CT) imaging, we prospectively compared height, transverse diameter, and surface area of the C4-5 foramen to those of C3-4, C5-6 and C6-7 foramina of the same side in the whole study population as well as in male and female patients. RESULTS: In the whole study population at C4-5 intervertebral foramen the mean foraminal height was 8.37 ± 1.3 mm on the right and 8.85 ± 1.16 mm on the left; and the mean foraminal transverse diameter on the right was 4.97 ± 1.35 mm and 5.14 ± 1.16 mm on the left. No statistically significant difference was found between the measurements in the whole study population at various levels, between or within male and female patient groups. CONCLUSION: C4-5 intervertebral foramen is not uniformly smaller in patients with cervical spondylotic myelopathy.