No abstract

The most common manifestation of infection due to nontuberculous mycobacteria (NTM) in children is cervical lymphadenitis in an otherwise healthy patient. We identified and reviewed 19 cases of proven or presumptive lymphadenitis due to NTM seen at our hospital over the course of 13 months. Nine patients underwent initial surgical excision of involved lymph nodes. Ten children did not have involved lymph nodes excised initially and were treated with macrolide-containing antibiotic regimens. Of these patients, five required subsequent surgical excision and five were cured with combination chemotherapy. Six patients underwent radiographic imaging of the head and neck that revealed asymmetrical adenopathy with ring-enhancing masses but minimal inflammatory stranding of the subcutaneous fat, a finding that may distinguish adenitis caused by NTM from staphylococcal and streptococcal adenitis. Our data suggest that if surgical excision is not considered feasible, antimicrobial therapy for adenitis due to NTM may be beneficial for some patients.

Bilateral pansinusitis was the most common cause. All patients received an initial trial of intravenous antibiotics. Based on the Fisher exact test, no statistically significant differences were detected for age, sex, presence of gaze restriction, and radiographic findings. Based on multiple logistic regression, degree of proptosis was the only significant multivariate predictor of surgery (P =.003). The estimated probability of surgery was 6% when there was no proptosis, and 92% for 2 mm of proptosis. The location of the SPA determined the route of surgical drainage. Eleven patients with a medially based SPA underwent drainage via the transnasal endoscopic approach, and 3 with a superior SPA underwent drainage externally. The external approach was associated with a longer hospital stay (median, 7 days) than either the endoscopic or the intravenous antibiotic approach (median, 5 days).

Motor, sensory, and integrative activities of the brain are coordinated by a series of midline-bridging neuronal commissures whose development is tightly regulated. Here we report a novel human syndrome in which these commissures are widely disrupted, causing clinical manifestations of horizontal gaze palsy, scoliosis, and intellectual disability. Affected individuals were found to possess biallelic loss-of-function mutations in the axon guidance receptor Deleted in Colorectal Carcinoma (DCC), a gene previously implicated in congenital mirror movements when mutated in the heterozygous state, but whose biallelic loss-of-function human phenotype has not been reported. Structural MRI and diffusion tractography demonstrated broad disorganization of white matter tracts throughout the human CNS including loss of all commissural tracts at multiple levels of the neuraxis. Combined with data from animal models, these findings show that DCC is a master regulator of midline crossing and development of white matter projections throughout the human CNS.

Duane retraction syndrome (DRS) is a congenital eye-movement disorder defined by limited outward gaze and retraction of the eye on attempted inward gaze. Here, we report on three heterozygous loss-of-function MAFB mutations causing DRS and a dominant-negative MAFB mutation causing DRS and deafness. Using genotype-phenotype correlations in humans and Mafb-knockout mice, we propose a threshold model for variable loss of MAFB function. Postmortem studies of DRS have reported abducens nerve hypoplasia and aberrant innervation of the lateral rectus muscle by the oculomotor nerve. Our studies in mice now confirm this human DRS pathology. Moreover, we demonstrate that selectively disrupting abducens nerve development is sufficient to cause secondary innervation of the lateral rectus muscle by aberrant oculomotor nerve branches, which form at developmental decision regions close to target extraocular muscles. Thus, we present evidence that the primary cause of DRS is failure of the abducens nerve to fully innervate the lateral rectus muscle in early development.

We recommend that every patient with a midline nasal dermoid be evaluated preoperatively by fine-cut CT scan, in the axial and coronal planes, using both bone and soft-tissue algorithms. Because of CT limitations for assessing soft tissue at the cranial base, a complementary thin-section, high-resolution, multiplanar MRI scan should be considered. Transnasal endoscopic excision of midline nasal dermoid should be used if the dermoid is located within the nasal cavity, and there is minimal or no cutaneous involvement. This approach can be combined with a short vertical midline lenticular excision of a cutaneous punctum. Vertical cutaneous excision should be limited; the best location is the nasal tip. Vertical nasal scars over the bony pyramid invariably widen no matter what intradermal suture is used. Endoscopic removal should be considered even if preoperative radiologic studies show extension to the anterior cranial fossa. Endoscopic excision could also be used to resect a dermoid extending between the dural leaves of anterior fossa. However, a combined intra-extracranial approach is necessary if the dermoid is in the falx cerebri. We agree with other authors that frozen sectioning the superior margin of the specimen should be done to ensure that there is no intracranial extension. Valsalva maneuver during endoscopic visualization of the cranial base is a valuable means of ruling out a cerebral spinal fluid leak.

Pediatric CNO of the mandible has characteristic radiographic and pathologic features and is usually found as one of multiple disease foci in CRMO rather than as an isolated lesion.

Severity of craniofacial features (total OMENS score) significantly correlated with the degree of temporal bone abnormality, but no correlation was noted with the degree or type of hearing loss. We recommend the following: (1) use of the OMENS classification system for documentation and analysis of dysmorphic finding in hemifacial microsomia; (2) complete audiologic evaluation in all patients with hemifacial microsomia regardless of the type of craniofacial abnormalities; and (3) temporal bone computed tomography for further evaluation of hearing deficit.