Treatment of bilateral choanal atresia in the premature infant.

An innovative technique for choanal atresia repair was used for a unique case of bilateral choanal atresia in a 28-week premature newborn. Endoscopic transnasal KTP laser was employed as an alternative to standard instrumentation to reach the very small atretic plate of a premature nose, providing good visualization of the operative field, thereby avoiding damage to the adjacent structures. The successful repair allowed for early extubation and avoidance of a tracheotomy. The clinical and surgical aspects of the case are discussed. With the likelihood of encountering more premature infants with choanal atresia given the improving neonatal intensive care, we propose that KTP laser repair be considered as an alternative to conventional procedures for this particular population.

New treatment options for lymphangioma in infants and children.

Lymphangiomas are congenital malformations of the lymphatic system. These lesions occur most often in the head and neck area, and their treatment continues to be a challenge. Fortunately, a number of advances have occurred in the diagnosis and management of lymphatic malformations in the past decade. The purpose of this article is to clarify the embryology, pathogenesis, histopathology, and classification of these lesions, as well as to describe their various forms of clinical presentation. We provide a complete review of the diagnostic measures available and thoroughly discuss new therapeutic interventions proposed to treat lymphangiomas.

Treatment of lymphangiomas with OK-432 (Picibanil) sclerotherapy: a prospective multi-institutional trial.

OBJECTIVE: To describe and to determine the robustness of our study evaluating the efficacy of OK-432 (Picibanil) as a therapeutic modality for lymphangiomas. DESIGN AND SETTING: Prospective, randomized trial and parallel-case series at 13 US tertiary care referral centers. SUBJECTS: Thirty patients diagnosed as having lymphangioma. Ages in 25 ranged from 6 months to 18 years. Twenty-nine had lesions located in the head-and-neck area. INTERVENTION: Every patient received a 4-dose injection series of OK-432 scheduled 6 to 8 weeks apart unless a contraindication existed or a complete response was observed before completion of all injections. A control group was observed for 6 months. OUTCOME MEASURES: Successful outcome of therapy was defined as a complete or a substantial (>60%) reduction in lymphangioma size as determined by calculated lesion volumes on computed tomographic or magnetic resonance imaging scans. RESULTS: Overall, 19 (86%) of the 22 patients with predominantly macrocystic lymphangiomas had a successful outcome. CONCLUSIONS: OK-432 should be efficacious in the treatment of lymphangiomas. Our study design is well structured to clearly define the role of this treatment agent.

Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

We have identified five different homozygous recessive mutations in a novel gene, TMIE (transmembrane inner ear expressed gene), in affected members of consanguineous families segregating severe-to-profound prelingual deafness, consistent with linkage to DFNB6. The mutations include an insertion, a deletion, and three missense mutations, and they indicate that loss of function of TMIE causes hearing loss in humans. TMIE encodes a protein with 156 amino acids and exhibits no significant nucleotide or deduced amino acid sequence similarity to any other gene.