Maternally inherited deafness associated with a T1095C mutation in the mDNA.

Hearing loss is a relatively frequent defect in children with a genetic or predisposition basis in about 50% of cases. Mitochondrial DNA (mtDNA)-associated disorder often present with sensorineural hearing loss (SNHL) either in isolation or as a part of a multisystem disorder in adults but the frequency in pediatric cases is unknown. We analysed deafness-related mtDNA mutations in 80 deaf children to assess the relative frequency of alterations in childhood-onset SNHL. In 16 patients in whom maternal inheritance was possible, we screened for new mutations likely to affect mitochondrial protein synthesis. In one child we detected a novel mutation (T1095C) in the 12S rRNA gene. This mutation fulfils the suggested criteria for definition of a disease-related nucleotide variant. No mutations were found in other patients. Although we cannot exclude the presence of still undefined new mtDNA mutations, our data suggest that mtDNA defect are not common in childhood-onset SNHL.

Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome).

Microdeletion 22q11 (del22q11) is one of the most frequent causes of genetic syndromes. The majority of cases of di George and velocardiofacial syndromes are due to del22q11. These conditions are considered to be developmentally related to neural crest anomalies influencing the differentiation of the branchial arches, including the percursor tissue of the ear. In addition, the UFDIL gene, an ubiquination gene being expressed during embryogenesis in the inner ear primordia, has been identified in the 22q11 critical region. The aim of this study was to evaluate the prevalence of hearing impairment in del22q11 syndrome. Admittance audiometry, behavioural pure tone audiometry and auditory brainstem response (ABR) were performed in 27 children studied at our hospital between 1997 and 1998. Results were related to clinical history, frequency otitis media and immune status. Sensorineural hearing loss was found in 4/27 (15%) patients (severe in three cases, mild in one), conductive hearing impairment in 12/27 (45%) (moderate in four cases, mild in eight) and normal hearing in 11/27 (40%). Interestingly, three of the patients with sensorineural hearing loss had cerebral lesions due to neonatal distress, to hydrocephalus and to post-surgical ischaemia each in one. The prevalence of speech delay, otitis media and low CD3 values was higher among patients with conductive hearing impairment in comparison with those with normal hearing. In conclusion, hearing impairment was documented in 60% of the patients and must be included among the clinical features of del22q11 syndrome. Audiological evaluation is recommended in patients with del22q11 in order to reduce the risk of speech deficit.

[Otomastoiditis caused by Mycobacterium avium: a case report]. / Otomastoidite da Mycobacterium avium: descrizione di un caso.

Non tuberculous Mycobacterial (NTM) Infections mainly affect immunocompromised patients, appearing as disseminated or pulmonary disease. In immunocompetent children the most common form of infection with NTM is cervical adenitis. Ear infection seems to be a rare disease. We present a case of otomastoiditis caused by Mycobacterium avium in a 15 months old child, immunologically normal. Patient was referred for persistent right otitis unresponsive to routine medical therapy. TC scan of the ear and temporal bones revealed: soft tissue in external auditory canal, Eustachian canal, and middle ear overlying ossicles with erosion of tegmen tympani. Tuberculin skin test was positive with 5 units PPD and culture yielded M. avium. The patient undergo timpanomastoidectomy and medical therapy with antituberculous drugs and Steroids, subsequently he was given Clarithromycin and Rifabutin. M. avium is an ubiquitous low grade pathogen found in soil, water, dust and food. There is no evidence of direct transmission. Only a few cases of otomastoiditis due to M. avium have previously been reported. The case presented underlines the importance of microbiological investigations. When a NTM infection is suspected surgeons and infectious diseases specialists should cooperate to find an optimal treatment regimen of this unusual disease.

Sensorineural hearing loss in patients reaching chronic renal failure in childhood.

The incidence of sensorineural hearing loss (SNHL) was investigated in 68 patients who reached chronic renal failure (CRF) in childhood with the aim of identifying possible risk factors. Tests were carried out by means of pure-tone and impedance audiometry. SNHL was found in 29% of patients on conservative treatment, 28% of patients on hemodialysis, and 47% after renal transplantation. Differences among groups were not significant. A significant correlation was found with the administration of ototoxic drugs (aminoglycosides and furosemide). We hypothesize that SNHL may be reduced in patients with CRF or on renal replacement therapy by strictly monitoring ototoxic therapy.

[A rare case of endotympanic hemangioma]. / Su di un raro caso di emangioma endotimpanico.

Hemangiomas affectioning the external ear canal or the tympanic membrane have rarely been described. Only a very few cases are reported in world literature conarn these vascular tumors involving the middle ear space. The Authors report a rare case of a right endotympanic hemangioma associated with ossicular dysmorphism, resulting in conductive unilateral hearing loss, in a 9 year-old girl with cutaneous hemangiomas of the face. The Authors review Literature and discuss the possible pathogenetic implications of the intraoperatory findings.

[Bronchoalveolar lavage (BAL) in the diagnosis of pulmonary infections in immunocompromised children]. / Il lavaggio bronco-alveolare (BAL) nella diagnostica delle infezioni polmonari nei bambini immunocompromessi.

The authors report their personal case records of broncho-alveolar lavage in immuno-compromised children. 22 children were observed from 1991 to 1992 at the E.N.T. Department of the Bambino Gesù Hospital, National Research Institute, in Rome. Flexible bronchoscopy is used under both local and general anesthesia without muscle relaxants. The epithelial lining fluid collection is greater than that obtained when muscle relaxation is used. For each patient 3 specimens are collected: for virological, bacteriological, mycological and immunological analysis. In 90% of the cases a correct etiological diagnosis of the pulmonary disease was possible. In 14 cases the diagnosis was possible even after a week from the beginning of the antibiotic therapy.

[Monostotic fibrous dysplasia of the temporal bone: description of a case and review of the literature]. / Displasia fibrosa monostotica del temporale: descrizione di un caso e revisione della letteratura.

Only a few cases of fibrous dysplasia of the temporal bone (monostotic form) have been described in the literature. The recent observation of a 15-year-old child presenting this pathology led the authors to review the literature available and to analyze the most common aspects of this disease. The clinical and radiological aspects, the differential diagnosis, histopathological features and therapeutical approaches are discussed.

Unilateral sensorineural hearing loss in children.

The authors present a report of 280 cases of unilateral sensorineural hearing loss (U.H.L.) in children, observed from 1979 to 1986 in the Bambino Gesu' Hospital in Rome. Only 23.2% of these hearing impairments were due to a known etiology (mainly mumps infection). In the majority of the cases (79.3%) the hearing loss was profound. The authors discuss the methods for the etiological diagnosis and the possibility of prophylaxis both of U.H.L. and of communication difficulties.

Otologic impairments in achondroplasia: a nosologic assessment.

The AA report a clinical and radiological study performed in 18 achondroplastic patients in order to achieve a nosological settlement of the otological impairments. They found two main otological syndromes; one, a congenital dysplasic syndrome, showing permanent conductive or sensory-neural hearing loss due to malformations of the middle ear or of the inner ear; the other, an inflammatory tubal tympanic syndrome with transient conductive hearing loss, which is relatively frequent in achondroplastic patients, but seems not related to the main disease.

Sudden deafness in children.

The authors present a report of 38 cases of sudden deafness (SD), observed in the Bambino Gesù Hospital in Rome. Twenty-six cases were due to infective causes, such as mumps, meningitis, measles, varicella or to physical trauma. The other 12 cases were defined as idiopathic (ISD) on the basis of their anamnestic and clinical findings. The etiological, prognostic and therapeutic aspects are discussed.