Spinal cord compression in young children with type VI mucopolysaccharidosis.

Spinal cord compression (SCC) is a known complication of mucopolysaccharidosis type VI (MPS VI) secondary to atlantoaxial subluxation, craniovertebral stenosis, posterior longitudinal ligament hypertrophy, or dural thickening. SCC is expected to occur in the natural history of the disease, regardless of enzyme replacement therapy (ERT), as intravenous enzyme does not cross the blood-brain barrier. We describe six MPS VI children with SCC, all diagnosed before 7years of age. Within this group, four of the children were diagnosed with SCC after the introduction of ERT. We hypothesize that these patients may illustrate the previously undetected risk of increased joint mobility caused by ERT which may have contributed to increased cervical instability by loosening the neck joint, thus leading to or unmasking SCC. We reinforce the need for close follow-up of SCC, periodic neurological assessment, spine imaging, and neurophysiology in all MPS VI patients before and during ERT. Neurophysiological abnormalities may precede changes in MRI images (as shown in patients 4 and 5 from this sample) and should, therefore, be accessed in MPS VI patient evaluations, allowing for timely intervention and better prognosis. We recognize the limitations of these data due to the small sample size and recommend further investigation into this patient population.

Variações anatômicas do complexo ostiomeatal: achados tomográficos em 200 pacientes / Anatomical variants of the ostiomeatal complex: tomographic findings in 200 patients

OBJETIVO: O objetivo deste trabalho foi verificar a freqüência e os tipos de variações anatômicas do complexo ostiomeatal. MATERIAIS E MÉTODOS: Foram revisadas 200 tomografias computadorizadas de pacientes com suspeita clínica de sinusopatia. RESULTADOS: Observamos um ou mais tipos de variações anatômicas em 83,5 por cento dos pacientes, as mais freqüentes envolvendo o corneto médio (84 por cento) e o septo nasal (34 por cento). Outras variantes anatômicas comuns encontradas foram a presença de aeração do agger nasi e células etmoidais infra-orbitárias (células de Haller). CONCLUSÃO: As variações anatômicas do complexo ostiomeatal anterior são muito corriqueiras. As mais freqüentes envolvem o corneto médio e o septo nasal.

OBJECTIVE: The present study was aimed at evaluating the frequency and types of anatomical variants of the ostiomeatal complex. MATERIALS AND METHODS: Computed tomography studies of 200 patients evaluated for clinical suspicion of sinusopathy were reviewed. RESULTS: Two or more types of anatomical variants were observed in 83.5 percent of the patients. The most frequent anatomical variants involved the middle turbinate (84 percent) and the nasal septum (34 percent). Other common variants found were the presence of pneumatized agger nasi cells and infraorbital ethmoid cells (Haller cells). CONCLUSION: The prevalence of anatomical variants in the ostiomeatal complex is high, the most frequent ones involving the middle turbinate and the nasal septum.

Prevalence of sleep apnea and metabolic abnormalities in patients with acromegaly and analysis of cephalometric parameters by magnetic resonance imaging.

OBJECTIVES: To determine the prevalence of sleep apnea (SA) and SA syndrome (SAS) in patients with acromegaly and correlate SA with clinical, laboratory, and cephalometric parameters. DESIGN AND METHODS: Prospective and cross-sectional study of 24 patients with active acromegaly evaluated by clinical and laboratory (GH, IGF-I) parameters, polysomnography and magnetic resonance imaging (MRI) of the pharynx. RESULTS: Out of 24 patients, 21 had SA (87.5%), of which 20 (95.3%) had the predominant obstructive type. Median age of these 21 patients was 54 years (range 23-75) and median estimated disease duration was 60 months (range 24-300). The frequency in SA patients of impaired glucose tolerance, diabetes mellitus (DM), and hypertension was 19, 33.3, and 71.4% respectively. Goiter was found in 10 patients (47.6%) and obesity in 18 (90%). Median GH level was 14 mug/l (1.4-198) and median %IGF-I (percentage above the upper limit of normal range of IGF-I) was 181% (-31.6 to 571.2). The prevalence of SAS was 52.4%. Apnea-hypopnea index (AHI) correlated significantly with age, waist circumference, body mass index, and hypopharynx area. The AHI was significantly higher in patients with hypertension and DM. CONCLUSIONS: The prevalence of SA and SAS in acromegaly was similar to the one previously described in other series. Age was a significant risk factor, and hypertension and DM were significantly associated complications of SA. Obesity was also significantly related to SA, as a risk factor, a complication or both. Overall, cephalometric parameters by MRI did not correlate with SA.