Extensive Darier's disease with pityriasis amiantacea, alopecia and congenital facial nerve palsy.

We present a 65-year-old man with Darier disease with pityriasis amiantacea on the scalp, alopecia, and congenital facial nerve palsy.

[Congenital facial palsy].

Congenital facial palsy is unilateral or bilateral facial nerve palsy at birth due to genetic or different pathogenic factors. It can be divided into syndromic type and non-syndromic type according to its accompanying symptom. The pathogeny and symptom of each type are different, in part with genetic heterogeneity. Congenital facial palsy cannot recover spontaneously. Different types of congenital facial palsy have different treatment schemes. The treatment is significant to the improvement of life quality and physical and mental development of children with congenital facial palsy.

Unilateral congenital facial nerve paralysis secondary to a benign epithelioid peripheral nerve sheath tumor.

OBJECTIVE: A benign epithelioid peripheral nerve sheath tumor is described in the setting of congenital facial nerve (FN) paralysis. This is the first reported case in the English literature. PATIENT: A 10-month-old girl with unilateral congenital FN paralysis. INTERVENTIONS: Auditory brainstem evoked potential study, gadolinium-enhanced magnetic resonance imaging, temporal bone computed tomography, and transmastoid FN decompression with tumor resection. MAIN OUTCOME MEASURES: Follow-up for tumor recurrence and postoperative FN function. RESULTS: The child underwent a transmastoid FN exploration with resection of a 0.6-cm spherical tumor analyzed to be a benign epithelioid peripheral nerve sheath tumor. There is no evidence of recurrence, and FN function was unchanged at 1 year postoperatively. CONCLUSION: Benign epithelioid peripheral nerve sheath tumor can cause congenital facial nerve palsy.

[Congenital cataracts facial dysmorphism neuropathy syndrome--first Hungarian case report]. / Congenitalis cataracta facialis dysmorphismus neuropathia szindróma--elso magyarországi közlés.

The congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome (OMIM 604168) is a recently described autosomal recessive developmental disorder. It is almost completely restricted to an endogamous group of the European Vlax Roma population, called the Rudari. The CCFDN syndrome is a complex phenotype involving multiple systems, characterized by facial dysmorphism, congenital cataracts, microcorneae, delayed early motor and intellectual development, hypogonadotrop hypogonadism, hypomyelination of the peripheral nervous system, and serious complications related to general anaesthesia. This disorder is caused by a homozygous mutation of the carboxy-terminal domain phosphatase 1 (CTDP1) gene, localized to the 18q23 region. Authors present one genetically identified case in a large Roma family. The case documents that the CCFDN mutation is present also in the Hungarian Roma population. Underlie of antropomorphological data the authors presume that the CCFDN mutation reached Hungary as a result of emigration of Vlax Gypsies in the 18th century. The paper calls attention to the fact that molecular genetic diagnostics can replace invasive methods and makes possible the identification of heterozygotes without clinical symptoms. The introduction of the genetic screening enables us to perform genetic counselling and prevention in this high-risk population.

Non-traumatic congenital facial nerve paralysis; electroneurophysiologic evaluation of four cases.

Non-traumatic congenital facial paralysis is frequently due to intrauterine hypoplasia of the facial nerve and usually appears as a component of a syndrome. The experience about this problem is limited due to its rare occurrence and sometimes differential diagnosis of congenital facial paralysis of developmental origin from an acquired one in children and infants needs much effort. Controversy remains regarding the site of the lesion. Total facial paralysis is uncommon and inherited transmission has been reported on some occasion. Four children with congenital facial paralysis, whose family history is noncontributory, are presented in this report and the related literature is reviewed.

Pontine tegmental cap dysplasia: report of two new cases from Kuwait.

We describe two patients (a Filipino boy aged 2.7 years and a Kuwaiti girl aged 4.8 Years) with clinical and MRI findings consistent with the diagnosis of pontine tegmental cap dysplasia (PTCD) and compare them with 23 other cases reported in the literature. Both presented with feeding problems (VII nerve), sensori-neural deafness (VIII nerve) and hypotonia from birth and later developed corneal opacities due to loss of corneal sensation (V nerve). They have severe psychomotor developmental delay. The MRI of their brain showed a flattened ventral pons, vaulted "cap"- like structure protruding into 4th ventricle and a "molar tooth" sign. One of our patients also had Tetralogy of Fallot (TOF) successfully corrected. The other had no extracranial manifestations. The findings in our patients are similar to those reported except for the occurrence of TOF which has not been reported before in association with PTCD.

Congenital tuberculosis with facial nerve palsy.

Congenital tuberculosis is unusual, and central nervous system involvement is even more rare. We report a case of congenital tuberculosis presenting with facial palsy and purulent otorrhea.

Congenital bifurcation of the intratemporal facial nerve.

Anomalies of the course of the facial nerve have been reported in association with middle and inner ear malformations. Bifurcation of its intratemporal portion is a rare malformation in which focal splitting of one or more facial nerve segments occurs. We describe the CT appearance of this anomaly and discuss its possible embryology. Facial nerve bifurcation is important to recognize in patients undergoing evaluation for congenital hearing loss and other congenital ear malformations.

Congenital and acquired facial nerve paralysis in children.

Facial nerve paralysis in children should be considered distinct from that which occurs in adults. The author submits a slightly different classification of facial nerve paralysis in children based on traditional thinking. Specifically, acquired facial nerve paralysis is thought to be influenced by both prenatal and postnatal factors. This segregated approach toward acquired paralysis should allow a clearer understanding of the pathophysiology of in utero factors.

Intratemporal facial nerve lesions: infections, trauma, and new growth.

The lesions, infections, traumas, and new growths that affect the intratemporal portion of the facial nerve at all ages are examined and discussed. The facial nerve is shown to be extremely durable and capable of recovery. The management except in complete severence is conservative. Surgical intervention should be restricted in the early stages.

Congenital bilateral facial nerve hypoplasia with sensorineural hearing loss: a case report.

A 3-year-old child presented with congenital bilateral facial nerve palsy with bilateral profound sensorineural hearing loss. High Resolution Computed Tomogram (HRCT) of the temporal bones found bilateral atresia of cochlear nerve canals, incomplete partition of the cochleae and narrow facial nerve canals. Magnetic resonance imaging (MRI) revealed bilateral hypoplasia of facial nerves and aplasia of both vestibulocochlear nerves. There have been no other reported cases with this presentation. The possible aetiology and treatment options for the patient are discussed. We highlighted the review of aplasia/hypoplasia of the facial nerve and hypoplasia of cochlear nerve canal.

Developmental facial paralysis: a review.

The purpose of this study is to clarify the confusing nomenclature and pathogenesis of Developmental Facial Paralysis, and how it can be differentiated from other causes of facial paralysis present at birth. Differentiating developmental from traumatic facial paralysis noted at birth is important for determining prognosis, but also for medicolegal reasons. Given the dramatic presentation of this condition, accurate and reliable guidelines are necessary in order to facilitate early diagnosis and initiate appropriate therapy, while providing support and counselling to the family. The 30 years experience of our center in the management of developmental facial paralysis is dependent upon a thorough understanding of facial nerve embryology, anatomy, nerve physiology, and an appreciation of well-recognized mishaps during fetal development. It is hoped that a better understanding of this condition will in the future lead to early targeted screening, accurate diagnosis and prompt treatment in this population of facially disfigured patients, which will facilitate their emotional and social rehabilitation, and their reintegration among their peers.

Inner ear anomalies in congenital aural atresia.

OBJECTIVES: To define the prevalence of inner ear anomalies in aural atresia patients and to recognize patterns of developmental anomalies in aural atresia patients. STUDY DESIGN: Retrospective review. SETTING: Academic medical center. INTERVENTION: Physical exam, audiometry, and temporal bone CT in selected patients. PATIENTS: Pediatric patients with aural atresia. MAIN OUTCOME MEASURE: Prevalence of inner ear anomalies and coexisting facial paralysis or sensorineural hearing loss. RESULTS: In this series of 118 patients with aural atresia, associated facial palsy was seen in 13%, whereas inner ear anomalies were present in 22%, including all patients with facial palsy. Interestingly, the inner ear anomalies often did not display a significant sensorineural hearing loss. Bilateral inner ear anomalies were frequently encountered despite unilateral atresia. Most anomalies involved the semicircular canals including several uncommon variants of posterior semicircular canal anatomy. CONCLUSION: Inner ear anomalies are common in the presence of aural atresia, especially when there is concurrent congenital facial palsy. The presence of inner ear anomalies should be recognized as a common feature of craniofacial microsomia.

Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN).

Congenital Cataracts with Facial Dysmorphisms and Neuropathy (CCFDN) is a complex autosomal recessive disorder characterized by bilateral congenital cataracts, developmental delay, peripheral; hypo-demyelinating neuropathy, mild facial dysmorphisms, and other rare signs. Cerebral and spinal cord atrophy is the main neuroimaging finding but other less common abnormalities have been previously described. We describe progressive focal lesions of supratentorial white matter in a 10-year-old boy affected by CCFDN. Other etiologies have been excluded and these lesions can be considered a new finding of the disease. We discuss a possible demyelinating mechanism affecting both peripheral and central myelin.

Another cause for conductive hearing loss with present acoustic reflexes.

There are numerous potential causes of conductive hearing loss (HL). It is important to obtain a thorough history and perform a complete examination, including audiometric testing and radiographic evaluation when necessary. In this report, we present a patient with an intact tympanic membrane, no history of ear disease or trauma who as an adult developed progressive, conductive HL because of an anomalous course of a dehiscent facial nerve. In the patient with a conductive HL and at least partially intact reflexes, superior semicircular canal dehiscence, fracture of the stapes superstructure proximal to the tendon, other third window phenomena, and now dehiscence of the facial nerve resulting in decreased mobility of the ossicular chain must be considered.

Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis.

Congenital cataracts-facial dysmorphism-neuropathy syndrome (CCFDN, MIM: 604168), is a recently delineated neurogenetic disease causing recurrent episodes of rhabdomyolysis; prevention and early diagnosis of rhabdomyolysis should be part of the clinical management of the disease.

Myectomy and botulinum toxin for paralysis of the marginal mandibular branch of the facial nerve: a series of 76 cases.

BACKGROUND: Paralysis of the marginal mandibular branch of the facial nerve is frequently seen in patients with oromandibular reconstructions or facial palsy. However, deformities caused by overpulling of the depressor muscles of the contralateral lower lip without being antagonized by the diseased counterpart is often quite conspicuous. Depressor myectomy of the contralateral lower lip therefore provides a method for correcting the dynamic deformity. METHODS: Seventy-six patients with paralysis of the marginal mandibular branch of the facial nerve were treated with either surgical depressor myectomy of the lower lip (25 patients), depressor myectomy with subsequent botulinum toxin injection (eight patients), or only chemical depressor myectomy with botulinum toxin injections (43 patients). RESULTS: Good to fair results were always achieved, with near balance of the lower lip during mouth opening and in facial expressions. Surgical myectomy may still result in recurrence in eight patients (24 percent), which will necessitate further treatment with botulinum toxin injections. CONCLUSIONS: Using myectomy for paralysis of the marginal mandibular branch of the facial nerve can be an effective treatment for this significant deformity. Chemical myectomy with botulinum toxin injection is a safe and convenient mode of treatment; however, the disadvantage is that it needs repeated injections and costs more.

Congenital cataracts-facial dysmorphism-neuropathy.

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance. To date, CCFDN has been found to occur exclusively in patients of Roma (Gypsy) ethnicity; over 100 patients have been diagnosed. Developmental abnormalities include congenital cataracts and microcorneae, primary hypomyelination of the peripheral nervous system, impaired physical growth, delayed early motor and intellectual development, mild facial dysmorphism and hypogonadism. Para-infectious rhabdomyolysis is a serious complication reported in an increasing number of patients. During general anaesthesia, patients with CCFDN require careful monitoring as they have an elevated risk of complications. CCFDN is a genetically homogeneous condition in which all patients are homozygous for the same ancestral mutation in the CTDP1 gene. Diagnosis is clinical and is supported by electrophysiological and brain imaging studies. The major differential diagnosis is Marinesco-Sjögren syndrome. The definitive diagnosis is molecular, based on homozygosity for the CTDP1 mutation. CTDP1 maps to 18qter and encodes a protein phosphatase whose only known substrate is the phosphorylated serine residues of the carboxy-terminal domain of the largest subunit of RNA polymerase II, indicating that CCFDN affects basic cellular processes of gene expression and developmental regulation. Families benefit from genetic counselling and predictive testing. Management includes surgical treatment of the cataracts, and rehabilitation and corrective orthopaedic surgery for the peripheral neuropathy. Thus, the most disabling manifestations, though not curable, are manageable, and allow an acceptable quality of life and everyday living. Current data indicate that patients survive well into adulthood.

Bell's palsy in Moebius syndrome.

We report a case of unilateral transient and reversible facial paresis, which was superimposed on a congenital bifacial palsy in a young adult with Moebius syndrome. Our case illustrates the potential for two conditions, both affecting the facial nerve and both of unknown etiology, to be juxtaposed in a single individual. Worsening of facial palsy in the Moebius syndrome may not signify progressive disease.