ABSTRACT
Pentalogy of Cantrell is a rare syndrome consisting of midline abnormalities involving the heart, sternum, abdominal wall, and the anterior and pericardial diaphragm. This combination of defects places patients at particular perioperative risk and requires individualized management during anesthetic care. The following report documents the management of a patient with pentalogy of Cantrell, whose condition was further complicated by severe midline craniofacial abnormalities, including large anterior encephalocele, deficient mandible, tethered tongue, and cleft palate. The case offers insight into the complexity of care in this unique patient population.
Subject(s)
Craniofacial Abnormalities/diagnosis , Encephalocele/diagnosis , Pentalogy of Cantrell/diagnosis , Fatal Outcome , Female , Humans , Infant, NewbornABSTRACT
Alström syndrome (AS) is a rare autosomal recessive ciliopathy caused by mutations in the ALMS1 gene. Hallmark characteristics include childhood onset of severe retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, and cardiomyopathy. Here we comprehensively characterize the auditory and otologic manifestations in a prospective case series of 38 individuals, aged 1.7-37.9 years, with genetically confirmed AS. Hearing loss was preceded by retinal dystrophy in all cases, and had an average age of detection of 7.45 years (range 1.5-15). Audiometric assessments showed mean pure tone averages (0.5, 1, 2, 4 kHz) of 48.6 and 47.5 dB HL in the right and left ears, respectively. Hearing was within normal limits for only 8/74 ears (11%). For the 66 ears with hearing loss, the degree was mild (12%), moderate (54%), or severe (8%). Type of hearing loss was predominantly sensorineural (77%), while three ears had mixed loss, no ears had conductive loss, and type of hearing loss was indeterminate for the remaining 12 ears. Serial audiograms available for 33 patients showed hearing loss progression of approximately 10-15 dB/decade. Our data show that hearing loss associated with AS begins in childhood and is a predominantly symmetric, sensory hearing loss that may progress to a severe degree. Absent otoacoustic emissions, intact speech discrimination, and disproportionately normal auditory brainstem responses suggest an outer hair cell site of lesion. These findings indicate that individuals with AS would benefit from sound amplification and if necessary, cochlear implantation.
Subject(s)
Alstrom Syndrome/physiopathology , Cochlea/physiopathology , Deafness/physiopathology , Hearing Loss/physiopathology , Acoustic Impedance Tests , Adolescent , Adult , Alstrom Syndrome/diagnosis , Alstrom Syndrome/genetics , Audiometry, Pure-Tone/methods , Auditory Threshold/physiology , Cell Cycle Proteins , Child , Child, Preschool , Deafness/diagnosis , Deafness/genetics , Diagnostic Techniques, Otological , Female , Hearing Loss/diagnosis , Hearing Loss/genetics , Humans , Infant , Male , Proteins/genetics , Young AdultABSTRACT
OBJECTIVES/HYPOTHESIS: To review our experience with the diagnosis and treatment of exercise-induced paradoxical vocal fold motion disorder (EPVFMD). STUDY DESIGN: Single-institution retrospective review and cohort analysis. METHODS: A single-institution retrospective review was performed identifying patients with paradoxical vocal fold motion disorder (PVFMD). Patients with isolated exercise-induced dyspnea were selected for further review. Flexible fiberoptic laryngoscopy (FFL) performed on these patients were reviewed with regard to presence of laryngeal pathology as well as the presence of PVFMD at rest and/or with exertion. The type of therapy was reviewed. Symptom outcomes were graded as complete resolution, improvement, or unchanged following therapy. RESULTS: There were 758 patients who were identified with PVFMD. A total of 104 patients demonstrated symptoms of PVFMD that were only exercise related (EPVFMD). There were 93/104 (89%) patients who underwent a pre- and post-trigger FFL. Of these, 48/93 (52%) patients had no evidence of PVFMD on initial FFL. After subjecting these patients to exertion, 83/93 (89%) had evidence of PVFMD on postexertion FFL, and 39/93 (42%) patients had evidence of PVFMD on both pre-exertion and postexertion FFL. There were 87/104 (84%) patients who had evidence of laryngeal edema, and 23/104 (23%) had one or more laryngeal lesion on examination. A total of 67 patients were enrolled in laryngeal control therapy and attended at least one session, with 48/67 (72%) demonstrating improvement or complete resolution of their symptoms. CONCLUSIONS: The diagnosis of EPVFMD is augmented with the addition of provocation testing. Findings of PVFMD can be identified at rest when asymptomatic. Laryngeal control therapy is an effective treatment for EPVFMD.
