Hereditary motor and sensory neuropathy Lom type in a Serbian family.

Hereditary motor and sensory neuropathy Lom type (HMSNL), also called CMT 4D, a hereditary autosomal recessive neuropathy, caused by mutation in N-Myc downstream regulated gene 1 (NDRG1 gene), was first described in a Bulgarian Gypsy population near Lom and later has been found in Gypsy communities in Italy, Spain, Slovenia and Hungary. We present two siblings with HMSNL, female and male, aged 30 and 26, respectively in a Serbian non-consanguineous family of Gypsy ethnic origin. They had normal developmental milestones. Both had symptoms of lower limb muscle weakness and walking difficulties with frequent falls, which began at the age of seven. At the age of 12, they developed hearing problems and at the age of 15 hand muscle weakness. Neurological examination revealed sensorineural hearing loss, dysarthria, severe distal and mild proximal muscle wasting and weakness, areflexia and impairment of all sensory modalities of distal distribution. Electrophysiological study revealed denervation with severe and early axonal loss. Sensorineural hearing loss was confirmed on electrocochleography and brainstem evoked potentials. Molecular genetic testing confirmed homozygote C564t (R148X) mutation in NDRG1 gene.

Ketoprofen is superior to metamizole in relieving postoperative pain after head and neck tumor operation.

PURPOSE: Recently, nonsteroidal analgoantipyretics are recommended in the management of postoperative pain, with great attention to their safety. We conducted a randomized, single blind study to compare the analgesic efficacy and safety of ketoprofen and dipyrone (metamizole) after major head and neck surgery. PATIENTS AND METHODS: 60 patients received postoperatively 100 mg ketoprofen or 2.5 g metamizole i.v. every 8h over 72h with additional administration of tramadol in case of inadequate analgesia. Pain was assessed by visual numeric scale every 2h during the 72h. RESULTS: Patients in both groups had similar pain score during the first 2 postoperative days, while on the 3rd postoperative day patients in the ketoprofen group had significantly lower pain score (p <0.05). CONCLUSION: The efficacy of ketoprofen to achieve postoperative analgesia was comparable to metamizole during the first 48h, while ketoprofen was superior to metamizole during the 3rd postoperative day.

[Correlation of subjective and objective methods of evaluating hearing threshold]. / Korelacija subjektivnih i objektivnih metoda za odredivanje praga sluha.

INTRODUCTION: Objective evaluation of hearing threshold and detection of hearing impairment are the basic prerequisites for hearing and speech rehabilitation. In infants and early pre-school children tonal audiometry is not possible. Though subjective, tonal audiometry is the most reliable method for evaluation of hearing threshold. Therefore, in children of this age, hearing threshold is evaluated by objective electroacoustic methods: early brainstem auditory evoked potentials (BAEP) and acoustic stapedius reflex. MATERIAL AND METHODS: In 60 adult examinees (120 ears) with normal hearing we analyzed the correlation between biological hearing threshold determined by tonal audiometry and threshold of ipsilateral stapedius reflex, as well as response threshold determined by brainstem evoked response audiometry (BERA). RESULTS AND DISCUSSION: We found a statistically significant correlation between biological hearing threshold and response threshold evaluated by brainstem evoked response audiometry. The linear Pearson correlation coefficient of: r = 0.40 for 500 Hz, r = 0.41 for 1,000 Hz, r = 0.44 for 2,000 Hz and r = 0.43 for 4,000 Hz (p < 0.01 for all values). Correlation coefficients between the biological hearing threshold and ipsilateral stapedius reflex threshold were not significant for 500 Hz (r = 0.46) and 1,000 Hz (r = 0.082), negative correlation was found for 2,000 Hz (r = 0.2656, p < 0.05) and significant correlation was confirmed only for 4,000 Hz (r = 0.225, p < 0.05). CONCLUSION: In regard to evident reliability of objective evaluation of hearing threshold by brainstem evoked response audiometry, this paper also suggests correction factors for evaluation of biological hearing threshold, and lists the deficiencies of hearing threshold assessment by this--still most accurate electrophysiological method.

[Congenital fistula of the stapedial footplate as an avenue for recurrent purulent meningitis]. / Kongenitalna fistula stapedijusne ploce kao put rekurentnog purulentnog meningitisa.

INTRODUCTION: Congenital fistula of the stapedial footplate is a rare cause of recurrent purulent meningitis and a diagnostic and therapeutic problem as well. CASE REPORT: We report a case of a stapedial fistula diagnosed intraoperatively in a 4-year-old boy, after recurrent meningitis. The boy was hospitalized at the Pediatric Clinic three times in a 6-month period because of recurrent meningitis. The applied anti-meningitis therapy presented with good general state of the child, but the main target was to discover the cause of recurrent meningitis. Immunologic and genetic investigations were performed. Otorhinolaryngologic findings nearly normal, except minimal asymmetry in the otoscopic finding. Eardrum was reddish with all other characteristics of a normal drum. The tympanometric curve was of type B/C on the right ear. MRI revealed hydrocephalus internus with signs of inflammation of mastoid cells and cavum tympani indicating explorative myringotomy and antrotomy. Intraoperatively, we found cerebrospinal fluid in the antrotympanic cavity, including malformation of the incus without contact with stapes and fistula on the middle part of the stapedial footplate with flow out of the perilymph. CONCLUSION: Perilymphatic fistula is a rare cause of recurrent meningitis, whereas congenital ear malformation may be a cause of recurrent meningitis, particularly in children. The diagnosis is intraoperative. The surgical treatment may be very difficult, often requiring revision of procedures especially if cerebrospinal fluid pressure is increased.

[Otoacoustic emissions--a step closer to understanding cochlear function]. / Otoakusticke emisije--korak ka razumevanju kohlearne funkcije.

INTRODUCTION: Otoacoustic emission is a phenomenon that may occur in a large group of normal-hearing subjects. Ear is an organ which collects and treats sounds from the surrounding environment, and nerve fibres transmit the perceived information to the brain in terms of nerve signals. However, ear can also produce a sound (otoacoustic-emission), which can be recorded using very sensitive microphones placed in the ear canal. OTOACOUSTIC EMISSION: Otoacoustic emissions may be spontaneous (SOAE) or may be a response to given auditory stimuli: transiently evoked otoacoustic emissions (TEOAE) and distortion product otoacoustic emissions (DPOAE). Applications of otoacoustic emissions in clinical and experimental medicine are various. Hearing screening program of newborns aims to identify infants with permanent bilateral hearing loss in the first days after birth. Screening programs are based on recordings of transiently evoked otoacoustic emissions (TEOAE) in the first step, and then (if it is necessary) brainstem evoked response audiometry. Transiently evoked otoacoustic emissions may also be used for differential diagnosis of cochlear and retrocochlear disorder. UTILIZATION: In cases of substantial retrocochlear pathological findings without cochlear involvement, transiently evoked otoacoustic emissions should be recordable because outer hair cell function is unaffected. It is possible to detect ototoxic effects of drugs before hearing loss can be detected by other methods (pure-tone audiometry). In a similar way, using otoacoustic emissions, it is possible to detect noise induced damages of the outer hair cells. Otoacoustic emissions provide a unique means for assessing the integrity of the medial efferent pathway. Further research into the properties of various types of otoacoustic emissions would contribute to understanding of cochlear function, and in particular, the relative roles of inner and outer hair cells. Evoked otoacoustic emissions are directly related to outer hair cell function and may be somewhat independent of inner hair cells. At present, there is insufficient evidence to indicate whether inner and outer hair cell disorders can exist separately, and if they can, whether they are so strongly correlated that statistically the distinction is meaningless. Applications of otoacoustic emissions in clinical practice is an important route in furthering our understanding.

[Otogenic herpes zoster--the Ramsay-Hunt syndrome]. / Otogeni herpes zoster--Ramsay-Huntov sindrom.

INTRODUCTION: Herpes zoster is a viral disease caused by a specific neurotropic virus-varicella zoster, similar to varicella virus, but not identical. Herpes zoster oticus was described by Letulle in 1882 and Körner in 1884, but particularly studied by Ramsay Hunt who reported it as a herpetic disease of ganglion geniculi in 1907. Herpes zoster oticus associated with facial nerve paralysis is most commonly called the Ramsay-Hunt syndrome. MATERIAL AND METHODS: In this work, cases of herpes zoster oticus associated with facial nerve paralysis are shown. At the ORL Clinic in Novi Sad, in the period from 1996-1997, 5 cases with Ramsay-Hunt syndrome were treated. The diagnostic procedure involved analysis of anamnestic data, clinical examination, complete cochleovestibular investigation with electronystagmography (ENG), topodiagnostic investigation of facial nerve (Schirmer's test, stapedial reflex, electrogustometry), electromyographic investigation (EMG), laboratory and virusologic investigations. According to many statistical data, paralysis of facial nerve due to herpes zoster is after Bell's paralysis the most common cause of the disease. The efflorescence of auricula, face and neck, which are typical manifestations of the disease, may precede facial nerve paralysis for about a week or more, and therefore may be disregarded and misdiagnosed with Bell's paralysis. The peripheral paralysis of this nerve in herpes zoster has an unfavorable course. More than 75% of patients have consequences of paralysis (paresis, hemispasm, synkinesia etc.). Regarding the unfavorable recovery period in herpes zoster, we managed our patients accordingly. CONCLUSION: Herpes zoster oticus is a common cause of peripheral facial nerve paralysis. The clinical course is not as favorable as in Bell's paralysis. It may be associated with sensorineural hearing disorder, vertigo and paralysis of other cranial nerves. The therapeutic procedures in Ramsay-Hunt syndrome include administration of conservative therapy and surgical intervention. We performed surgery in 2 and conservative therapy in 3 patients. Facial nerve decompression is indicated in persistent paralyses, or in cases without clear clinical signs of recovery after 6 weeks-2 months from the onset of the disease. The site of decompression is determined by topodiagnostic investigations.

[Use of nasogastric intubation in laryngeal surgery]. / Upotreba nazogastricne sonde u hirurgiji larinksa.

INTRODUCTION: This article reviews postoperative feeding in 173 patients after total laryngectomy, pharyngolaryngectomy or functional partial laryngectomy. Nasogastic feeding-tube was used in all patients except those with chordectomy and there was a follow-up of average recovery time of the swallowing function in all operated patients. RESULTS: We compared effects of feeding, from the 4th postoperative day, via nasogastric tube and orally--without tube on appearance of pharyngocutaneous fistula in laryngectomized patients. Average time of appearance of fistula in total laryngectomies was 9.3 days, in pharyngolaryngectomies 9.7 days. The average length of feeding via nasogastric tube was 11.2 days in the first and 11.7 days in the second group, indicating that fistula appeared at the time of nasogastric tube-feeding, or that the tube did not prevent appearance of fistula. In horizontal supraglottic laryngectomy and subtotal laryngectomy nasogastric tube-feeding is necessary in the first 7 to 10 postoperative days. DISCUSSION AND CONCLUSION: When starting peroral feeding it is necessary to take out the tube due to changes it caused on laryngcal mucosa that can prolong the period of swallowing recovery. In vertical partial laryngectomy nasogastric tube is not necessary and peroral feeding can start from the 4th postoperative day. If we compare pharyngolaryngectomy and other kinds of laryngeal operations, the greatest body weight loss occurred in horizontal supraglottic laryngectomy p < 0.05 and subtotal laryngectomy p < 0.05.

[Diagnosis of hearing disorders in children with early evoked auditory brainstem potentials]. / Dijagnostika ostecenja sluha kod dece ranim evociranim potencijalima mozdanog stabla na slusnu draz.

INTRODUCTION: Early Brainstem Evoked Response Audiometry (BERA) is a modern noninvasive, objective neurophysiological method for evaluation of hearing threshold. This method is applied in the complex otoneurological diagnostic procedure. The aim of the complete functional diagnostic procedure of hearing impairment in children is to determine the hearing level for the purpose of an early, adequate and quality hearing stimulation which affects the morphophysiological development of the complex auditory system. There are programs for early detection of the hearing impairment which give high-risk register. The registry consists of the following factors: family history of childhood hearing impairment, congenital perinatal infection, anatomical malformations involving the head or neck, birth-weight less then 1500 g, hyperbilirubinaemia, asphyxia with acidosis, usage of ototoxic drugs (high dosage of aminoglycosides). Hearing level is determinated by well-formed V wave on the lowest level of the stimulation intensity. MATERIAL AND METHODS: The paper presents an analysis of the results obtained in the period January 1992-December 1995. The diagnostic procedure was applied in 89 children ranging from 9 months to 5 years of age. The children were checked due to suspicion of hearing impairment, because of pathological speech development (undevelop speech, low level of speech development, etc.). Children were hospitalized and a complete diagnostic procedure consisted of: detailed hetero-anamnesis, otolaryngological examination, surdopaedagogical anamnesis and observation; objective audiological diagnostic procedure: BERA, tympanometry and stapedial reflex. BERA was done in a silent, dark, sound and electric-proof room using a Madsen Electronic ERA 2250. In general anaesthesia four silver disc electrodes were put to the vertex, both ear lobes and forehead of the child. Acoustic stimulation was done via earphones by monoaural stimulation by nonfiltrating click (frequency 1-4 kHz). We applied 2000 stimulations, with repetition rate 20/s. We started examination with the highest stimulation intensity--120dB, with decreasing steps of 10dB to the lowest intensity of stimulation with well-formed V wave. Tympanometry was done for evaluation of the middle ear status. The stapedial reflex was used as an indirect sign of hearing level. RESULTS: At the ENT Clinic in Novi Sad during period January 1992-December 1995 89 children ranging from 9 months to 5 years of age, 55 males (61.8%) and 34 females (38.2%) were examined. We found positive family anamnesis (deafness/severe hearing impairment) in 11 cases (12.3%). The other risk factors were found in 25 (28.1%): preterm infants 12 (48%), hypoxia and asphyxia 6 (24%), usage of the ototoxic drugs 3 (12%), hyperbilirubinaemia 2 (8%), exsanguinotransfusion 1 (4%), hydrocephalus 1 (4%). During clinical examination we have found normal otomicroscopical findings in 80 children (89.9%) and in 9 children (10.1%) tubal dysfunction was found. BERA--normal findings were in 22 children (24.7%), mild hearing impairment in 8 (9%), moderate level in 9 (10.1%), severe hearing impairment in 47 (52.8%) and deafness in 3 (3.4%). Tympanometric curve type "A" was found in 76 children (85.4%), type "C" in 9 (10.1%) and type "B" in 4 (4.5%). Stapedial reflex was not registrated in 59 children (66.3%). Habituation procedure (hearing amplification and surdopaedagogical treatment) was applied in 51 children (57.3%) e.g. 86.4% of children with hearing impairment ranging from moderate hearing level to kyphosis. DISCUSSION: Despite early beginning of the development of the complex auditory system damage, there are numerous nondetectable endogenous and exogenous factors. There are isolated hearing impairments or complex hearing impairments with damages of the other system and visible stigmata (syndrome). Well developed auditory function is a necessary precondition for speech development. (ABSTRACT TRUNCATED)

[Results of treatment of deep neck abscesses and phlegmons]. / Rezultati lecenja dubokih apscesa i flegmona vrata.

INTRODUCTION: Neck, as a structure very closely connected with oral cavity and pharynx, with great number of lymph nodes, (about 2, 3 of all are in the neck), is sometimes a localization of purulent inflammatory process but its incidence is not so high as the incidence of inflammations of surrounding organs and tissue. Deep neck abscesses are localized under the upper fascial layer. They have a serious clinical picture which could be further complicated if inflammation spreads on vessels or neck organs. If the processes spread toward the mediastinum because of the communication space between medial and deep fascial layer with mediastinum, it could be mediastinal inflammation with high mortality. The aim of this study is evaluation of results of treatment in patients with deep neck abscesses and phlegmons treated at Clinic in a ten year period (1988-1997). MATERIAL AND METHODS: This study comprised 21 patients who were treated at the ENT Clinic in Novi Sad during 1988-1997. The group consisted of 5 female and 16 male patients from one to 65 years of age. Sixteen (76.2%) patients were treated with antibiotics in general practice, and 5 were admitted without previous therapy, 8 patients were afebrile, with temperatures between 37-38 degrees C and 5 with fever and high temperature. In 17 patients 5 days passed from onset of symptoms to admittance at the Clinic, and 4 patients had enlarged neck lymph nodes a few months. Unknown primary site of infections were in 13 (61.9%) patients, that means abscesses developed as colliquation of inflammatory changed lymph node. In the rest of 8 patients abscesses developed as: oropharyngeal inflammation (4 patients), foreign body perforation of esophagus, chronic otitis media, neck injury, malignant lymphoma. Lateral side of the neck was the most frequent site of neck abscesses and phlegmon in 16 (76%) patients. Red skin over the abscesses didn't appear in 4 patients. In 2 patients neck emphysema developed: anaerobic inflammation in one patient and esophageal perforation in the second. In a patient with SE over the 50 per hour the length of the abscess was over 7 cm, and in those with SE over 100 per hour, the whole neck inflammed. All patients underwent surgical therapy between 24 to 48 h after admission with incision or excision of the abscesses. Pus was collected for culture during the incision or excision of the abscesses and phlegmon. Bacteria were discovered in specimens taken during the incision in 4 (19%) of patients. Different aerobic and anaerobic bacteria were isolated: Enterococcus, Peptostreptococcus sp, Streptococcus viridans, Clostridium species. Surgery was the basic therapy of neck phlegmons and abscesses. In all patients incision was sutured in the second stage. Only one patient got paralysis of n. accesorius. One patient died with gas gangrene of the neck. DISCUSSION AND CONCLUSION: Deep neck abscesses and phlegmons are relatively rare inflammations in spite of high incidence of surrounding tissue inflammations. The most frequent causes are inflammatory changes of lymph nodes. Treatment has to be urgent, because of vital neck structures and communications between deep neck space and mediastinum. We consider that surgery is the basic principle of therapy although we have not had experience with needle aspiration. Antimicrobial agents must be given only parenterally.