Mutations in the CHD7 gene, encoding for the chromodomain helicase DNA-binding protein 7, are found in approximately 60% of individuals with CHARGE syndrome (coloboma, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities and/or hearing loss). Herein, we present a clinical case of a 14-year-old male presenting for evaluation of poor growth and pubertal delay highlighting the diagnostic challenges of CHARGE syndrome. The patient was born full term and underwent surgery at 5 days of life for bilateral choanal atresia. Developmental milestones were normally achieved. At age 14 his height and weight were
Adolescent ; CHARGE Syndrome ; Choanal Atresia ; Diagnosis ; Ear ; Follicle Stimulating Hormone ; Follow-Up Studies ; Genetic Testing ; Gonadotropins ; Growth and Development ; Hearing ; Heart ; Humans ; Luteinizing Hormone ; Male ; Olfaction Disorders ; Puberty, Delayed ; Testis ; Testosterone

Intracranial hypotension usually arises in the context of known or suspected leak of cerebrospinal fluid (CSF). This leakage leads to a fall in intracranial CSF pressure and CSF volume. The most common clinical manifestation of intracranial hypotension is orthostatic headache. Post-dural puncture headache and CSF fistula headache are classified along with headache attributed to spontaneous intracranial hypotension as headache attributed to low CSF pressure by the International Classification of Headache Disorders. Headache attributed to low CSF pressure is usually but not always orthostatic. The orthostatic features at its onset can become less prominent over time. Other manifestations of intracranial hypotension are nausea, spine pain, neck stiffness, photophobia, hearing abnormalities, tinnitus, dizziness, gait unsteadiness, cognitive and mental status changes, movement disorders and upper extremity radicular symptoms. There are two presumed pathophysiologic mechanisms behind the development of various manifestations of intracranial hypotension. Firstly, CSF loss leads to downward shift of the brain causing traction on the anchoring and supporting structures of the brain. Secondly, CSF loss results in compensatory meningeal venodilation. Headaches presenting acutely after an intervention or trauma that is known to cause CSF leakage are easy to diagnose. However, a high degree of suspicion is required to make the diagnosis of spontaneous intracranial hypotension and understanding various neurological symptoms of intracranial hypotension may help clinicians.
Brain ; Cerebrospinal Fluid ; Cerebrospinal Fluid Leak ; Classification ; Diagnosis ; Dizziness ; Fistula ; Gait ; Headache ; Headache Disorders ; Hearing ; Intracranial Hypotension ; Movement Disorders ; Nausea ; Neck Pain ; Photophobia ; Post-Dural Puncture Headache ; Spine ; Tinnitus ; Traction ; Upper Extremity ; Ventriculoperitoneal Shunt

KBG syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, skeletal anomalies, short stature, craniofacial dysmorphism, and macrodontia. ANKRD11 gene mutation and 16q24.3 microdeletion have been reported to cause KBG syndrome. Here, we report two patients with ANKRD11 mutations who initially presented with neurologic symptoms such as developmental delay and seizures. Patient 1 was a 23-month-old boy who presented with a global developmental delay. Language delay was the most dominant feature. He had hypertelorism, hearing impairment, and behavior problems characterized as hyperactivity. A c.1903_1907delAAACA (p.Lys635GInfsTer26) mutation in ANKRD11 was identified with diagnostic exome sequencing. Patient 2 was a 14-month-old boy with developmental delay and seizure. He also had atrial septum defect, and ventricular septal defect. Generalized tonic seizures began at the age of 8 months. Electroencephalography showed generalized sharp and slow wave pattern. Seizures did not respond to antiepileptic drugs. A loss of function mutation c.5350_5351delTC (p.ser1784HisfsTer12) in ANKRD11 was identified with diagnostic exome sequencing. In both cases, characteristic features of KBG syndrome such as short stature or macrodontia, were absent, and they visited the hospital due to neurological symptoms. These findings suggest that more patients with mild phenotypes of KBG syndrome are being recognized with advances in diagnostic exome sequencing genetic technologies.
Anticonvulsants ; Atrial Septum ; Developmental Disabilities ; Early Diagnosis* ; Electroencephalography ; Exome* ; Hearing Loss ; Heart Septal Defects, Ventricular ; Humans ; Hypertelorism ; Infant ; Intellectual Disability ; Language Development Disorders ; Male ; Neurodevelopmental Disorders ; Neurologic Manifestations ; Phenotype ; Seizures

Behçet's disease is a systemic chronic disease that occurs in tissues such as eyes, joints, organs and nerves, and it has been noted that symptoms may be observed in a variety of tissues. In previous studies, reports of blepharoptosis observed in patients with Behçet's disease have been rare. We would like to report a case where a patient among those who visited our hospital with blepharoptosis had a history of Behçet's disease. This patient had been diagnosed with Behçet's disease, and complained of bilateral blepharoptosis even at the time of diagnosis. He complained of dysfunctions in vision and hearing, and upon eye examination, an eye movement disorder was found in his left eye. From the symptoms, neuro-Behçet's disease was diagnosed. The oculomotor and levator palpebrae superioris muscles are both controlled by cranial nerve III, which may suggest that Behçet's disease in this patient occurred in cranial nerve III. The patient received an oral steroid, and the symptoms have improved without surgery. Since we could identify the correlation between Behçet's disease and blepharoptosis, we considered that sharing this case and its outcome would be helpful for plastic surgeons who treat eyelids.
Behcet Syndrome ; Blepharoptosis* ; Chronic Disease ; Diagnosis ; Eyelids ; Hearing ; Humans ; Joints ; Muscles ; Ocular Motility Disorders ; Oculomotor Nerve ; Plastics ; Surgeons

The two distinctive clinical features of varicella-zoster virus (VZV) are varicella (chickenpox) by primary infection and zoster (singles) by the reactivation of latent infection. In addition to the two typical clinical symptoms mentioned above, diverse clinical manifestations have been reported as a result of VZV reactivation, including chronic radicular pain without rash, visual loss, facial palsy, dysphagia, sore throat, odynophagia, otalgia, hearing loss, dizziness, headache, hemiplegia, etc. Most of these symptoms are derived from neuropathy and vasculopathy of affected nerves and arteries. Diagnosis of VZV disease can be difficult if there is no appearance of a skin rash during development of atypical symptoms. In addition to natural infection, vaccination and anti-viral agent treatment have influenced the changes of epidemics and clinical presentations of varicella and zoster. In this article, diverse clinical manifestations caused by VZV reactivation, particular without skin rash, are reviewed.
Arteries ; Chickenpox ; Cranial Nerve Diseases ; Deglutition Disorders ; Diagnosis ; Dizziness ; Earache ; Exanthema ; Facial Paralysis ; Headache ; Hearing Loss ; Hemiplegia ; Herpes Zoster ; Herpesvirus 3, Human* ; Pharyngitis ; Vaccination ; Zoster Sine Herpete

Systemic vasculitis is a rare disease, and the diagnosis is very difficult when patient shows atypical symptoms. We experienced an unusual case of dysphagia caused by Churg-Strauss syndrome with lower cranial nerve involvement. A 74-year-old man, with a past history of sinusitis, asthma, and hearing deficiency, was admitted to our department for evaluation of dysphagia. He also complained of recurrent bleeding of nasal cavities and esophagus. Brain magnetic resonance imaging did not show definite abnormality, and electrophysiologic findings were suggestive of mononeuritis multiplex. Dysphagia had not improved after conventional therapy. Biopsy of the nasal cavity showed extravascular eosinophilic infiltration. All these findings suggested a rare form of Churg-Strauss syndrome involving multiple lower cranial nerves. Dysphagia improved after steroid therapy.
Aged ; Asthma ; Biopsy ; Brain ; Churg-Strauss Syndrome* ; Cranial Nerve Diseases ; Cranial Nerves ; Deglutition Disorders* ; Diagnosis ; Eosinophils ; Esophagus ; Hearing ; Hemorrhage ; Humans ; Magnetic Resonance Imaging ; Mononeuropathies ; Nasal Cavity ; Rare Diseases ; Sinusitis ; Systemic Vasculitis

PURPOSE: Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is classified as Kallmann syndrome (KS) with anosmia and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). This study was undertaken to investigate the clinical, endocrinological, and molecular characteristics in Korean patients with KS and nIHH. METHODS: Twenty-six patients from 25 unrelated families were included. Their clinical, endocrinological, and radiological findings were analyzed retrospectively. Mutation analysis of the GNRH1, GNRHR, KISS1, KISS1R, PROK2, PROKR2, TAC3, TACR3, FGF8, FGFR1, and KAL1 genes was performed in all patients. CHD7 and SOX10 were analyzed in patients with CHARGE (Coloboma, Heart defects, choanae Atresia, Growth retardation, Genitourinary abnormality, Ear abnormality) features or deafness. RESULTS: Of the 26 patients, 16 had KS and 10 had nIHH. At diagnosis, mean chronologic age was 18.1 years in males and 18.0 years in females; height SDS were -0.67+/-1.35 in males, -1.12+/-1.86 in females; testis volume was 2.0+/-1.3 mL; and Tanner stage was 1.5. There were associated anomalies in some of the KS patients: hearing loss (n=6) and congenital heart disease (n=4). Absence or hypoplasia of the olfactory bulb/sulci was found in 84.62% of patients with KS. Molecular defects in KAL1, SOX10, and CHD7 were identified in 5 patients from 4 families (16.0%, 4/25 pedigrees). After sex hormone replacement therapy, there were improvement in sexual characteristics and the sexual function. CONCLUSION: This study described the clinical, endocrinological, and molecular genetic features in IGD patients in Korea. Although the mutation screening was performed in 10 genes that cause IGD, molecular defects were identified in relatively small proportions of the cohort.
Cohort Studies ; Deafness ; Diagnosis ; Ear ; Female ; Gonadotropin-Releasing Hormone ; Hearing Loss ; Heart ; Heart Defects, Congenital ; Hormone Replacement Therapy ; Humans ; Hypogonadism* ; Immunoglobulin D ; Kallmann Syndrome* ; Korea ; Male ; Mass Screening ; Molecular Biology ; Nasopharynx ; Olfaction Disorders ; Retrospective Studies ; Testis ; Urogenital Abnormalities

Hearing loss is one of the most common sensory disorders and has numerous environmental and genetic factors that influence its onset and development. Hearing loss can be classified by either the affected anatomic or functional lesion of hearing loss, or as conductive or sensorineural hearing loss (SNHL). Genetic factors account for about 50% of congenital SNHL, and are therefore the most common cause. Molecular genetics research has identified more than 100 genes related to hearing and hearing loss, and shown that the risk of hearing loss caused by non-genetic factor is modified by genetic susceptibility. About 30% of genetic hearing loss is syndromic related and has affected phenotypic markers in other organs that make it easier to correctly diagnose the etiology of the hearing loss. In some cases, hearing loss can precede the pathologies of other organs and in these cases, hearing loss acts as a predictor of the syndrome associated pathologies of other organs. Inheritance of nonsyndromic hearing loss follows common inheritance patterns such as autosomal dominant, autosomal recessive, sex chromosome related, and mitochondrial inheritances. The paucity of predominant phenotypes and ethnic specificity of the prevalence and types of mutations may hinder the genetic diagnosis in nonsyndromic hearing loss. However, progress in elucidating the causal mutations is going forward using stratified genetic diagnostic strategies of candidate genes identified by hearing phenotypes and patterns of inheritance.
Diagnosis ; Fibrinogen ; Genetic Predisposition to Disease ; Genetics ; Hearing ; Hearing Loss* ; Hearing Loss, Sensorineural ; Inheritance Patterns ; Molecular Biology ; Pathology ; Phenotype ; Prevalence ; Risk Factors ; Sensation Disorders ; Sensitivity and Specificity ; Sex Chromosomes ; Wills

The incidence of hearing impairment in neonatal intensive care unit (NICU) was much higher than that of well-baby nursery. The incidence of the former was 2%-4%, whereas that of the latter was 0.1%-0.3%. Furthermore, the incidence of auditory neuropathy spectrum disorder, progressive and delayed hearing loss was also higher than those of other infants. Therefore, the newborn hearing screening program in NICU has become an important part of pediatric audiology. In this paper, we reviewed the previous studies and suggested the special procedure of hearing screening and following-up which based on the physiological and pathological characteristics of NICU in order to detect hearing impaired as early as possible.
Hearing Disorders ; diagnosis ; Hearing Tests ; Humans ; Incidence ; Infant, Newborn ; Intensive Care Units, Neonatal ; Neonatal Screening

OBJECTIVE: To explore the risk factors of the newborns who failed initial hearing screening by analysing the distortion production otoacoustic emission (DPOAE) results of 1021 newborns with potential risk factors of hearing loss. METHOD: All newborns, who were born in obstetrical department and admitted in the neonatal department of the Nanfang Hospital during June 2009 to January 2012 and underwent initial hearing screening, were included in this study. Their clinical data and DPOAE results were analyzed retrospectively in order to identify the risk factors for failure of initial hearing screening in infants; cases who failed the DPOAE test were followed up by telephone interviews. RESULT: (1) One hundred and thirty-seven cases (13.42%) of the 1021 newborns did not pass the hearing screening. 51 cases (5.00%) did not pass the test in both ears. Meanwhile, left ear in 47 cases (4.60%) and right ear in another 39 cases (3.82%) failed the test respectively. (2) Univariate analysis showed that 14 factors had significant influence on the hearing screening results, such as birth weight, small for gestational age, multiple pregnancy, gestational age, delivery mode, oligohydramnion, oxytocin, blood sugar level of newborn, Apgar scores at 1 min, exposed prenatally to glucocorticoid, maxillofacial deformity, hypoxic-ischemic encephalopathy, neonatal respiratory distress syndrome and neonatal asphyxia (P < 0.01). (3) Multivariate Logistic regression analysis suggested that birthweight less than 1500 g, multiple pregnancy, Apgar scores of 0-4 at 1 min, exposed prenatally to glucocorticoid and maxillofacial deformity were risk factors for failure of initial hearing screening (OR were 3.132, 1.808, 2.615, 1.827 and 12.174 respectively; 95% CI were 1.466-6.691, 1.120-2.917, 1.317-5.336, 1.130-2.953 and 1.986-74.632 respectively). (4) Results of telephone interviews revealed that Apgar scores of 0-4 at 1 min would be a risk factor of language development. CONCLUSION Birthweight less than 1500 g, multiple pregnancy, Apgar scores of 0-4 at 1 min, exposed prenatally to glucocorticoid and maxillofacial deformity are risk factors of failure of initial hearing screening among newborns with potential hearing loss. Monitoring of the hearing condition of the infants at risk should be strengthened.
Deafness ; diagnosis ; Female ; Hearing Disorders ; diagnosis ; Hearing Tests ; Humans ; Infant, Newborn ; Neonatal Screening ; Otoacoustic Emissions, Spontaneous ; Pregnancy ; Risk Factors