Left Facial Palsy Research Articles

Small vessel primary angiitis of the central nervous system: Rapidly progressing disease in a child

Primary angiitis of the central nervous system (CNS) is a recently described and rare disease in children. It is confined to the CNS and its etiology is unknown. A 10-year-old boy, previously healthy, presented with fever, headache and focal sei- zures, followed by left hemiparesis and central facial palsy. Brain magnetic resonance imaging (MRI) showed a large parie- tooccipital, cortical and subcortical lesion, hyperintense in T2-weighted/fluid attenuated inversion recovery imaging. Subse- quently, he presented a rapid neurological deterioration by weekly relapses, having several focal seizures, worsening of previous deficits and appearance of new ones on the right hemibody. He became aphasic and developed encephalopathy. Accordingly, MRI showed an extension of the previous lesion and appearance of new ones on the left hemisphere. He was initially treated with broad spectrum antibiotics and later immunoglobulin, methylprednisolone pulses and daily oral prednisolone, without sustained improvement. Etiologic investigations, including infectious or neurometabolic disease and systemic vasculitis were negative. Cerebral angiography was normal. A lesional biopsy confirmed a small vessel primary angiitis of the CNS. Seven wk after symptom onset, he was started on monthly cyclophosphamide (seven pulses) with prednisolone, achieving clinical stabilization. Mycophenolate mophetil was then substituted for cyclosphosphamide for 18 months. During a 2-year follow-up, no new clinical or imaging deterioration has been noted. Motor deficits have improved significantly but severe expression aphasia and cognitive deficit remains. He also developed refractory multifocal epilepsy. Small vessel primary angiitis of the CNS should be considered in a child with rapidly progressing acquired neurologic deterioration, multifocal inflammatory lesions on MRI and normal angiography. Prompt diagnosis and aggressive treatment is crucial for a favorable outcome.

Relapsing peripheral facial palsy: An unusual early sign of Friedreich ataxia

A 4-year-old child presented with peripheral left facial palsy. Neurological examination was normal except for deep tendon areflexia in the lower limbs. Serologic evaluation and cerebral magnetic resonance imaging to rule out post-infectious causes were normal. Electroneurography (ENG) showed absent sensory action potentials. After 15 days, the patient experienced a relapse of peripheral left facial palsy; ENG was unchanged, and somatosensory evoked potentials showed posterior column involvement. Genetic analysis demonstrated GAA repeat expansion on both alleles (860 and 900 GAA triplets) of the frataxin gene, and the child was diagnosed with Friedreich ataxia. Neurological findings at the last examination, performed at 7 years of age, were unchanged except for mild bilateral pes cavus. Peripheral seventh cranial nerve palsy could be an early and unusual sign of central nervous system degeneration and axonal sensory neuropathy. Its occurrence in this patient provides further evidence that Friedreich ataxia may have a varied clinical presentation at onset. In accordance with other studies, we believe that the size of both GAA expansions affect the age at onset of the disease, despite atypical phenotype.

Neuro imaging

No abstract available.

The functional anatomy of central auditory processing

Disorders of audition stand at a crossroads between neurology, audiology, psychiatry and ENT. It is not uncommon for patients to ‘fall between the cracks’ of the referral pathway, and to...

PP04.10 – 2544: Trichothiodystrophy presenting with cardiomyopathy and recurrent arterial ischemic strokes

Objective Considerable differences exist between arterial ischemic stroke (AIS) in childhood and adults. Among others, a wider spectrum of rare etiologies has to be considered in children. Trichothiodystrophy (TTD) is a rare genetic syndrome characterized by typical hair texture, variable photosensitivity, xerosis cutis, short stature and psychomotor retardation. We report a child with TTD and recurrent AIS. Methods Case report. Results A 3-year-old boy presented with acute onset of left hemiparesis and facial nerve palsy. Brain magnetic resonance imaging (MRI) revealed an extensive acute ischemic infarction involving the right middle cerebral artery (MCA) territory with sparing of the basal ganglia. Intravenous thrombolysis with tPA within 3 hours after onset led to recanalisation and dramatic clinical improvement. Aspirin treatment was initiated for secondary stroke prevention. However, on day 7 a focal epileptic seizure occurred. MRI showed acute DWI/ADC positive lesions in the left MCA territory. Intravenous thrombolysis was administered again, however, without success. Two days later he suffered from reinfarction involving his right MCA and left posterior cerebral artery. There was no evidence of thrombophilia, dyslipidaemia, sickle cell disease, metabolic or autoimmune disease. His past medical history was relevant for developmental delay and dilated cardiomyopathy of unknown origin. A dilated left ventricle but no thrombi could be detected with echocardiography. Since birth he had been suffering from dry, scaly skin. A striking hair texture with brittle, short hair with patchy thinning and alopecic areas was found. Electron and polarization microscopy confirmed TTD. Conclusion This is the second documented case of AIS associated with TTD (Toelle et al., 2001). Uncommon hair structure in combination with cardiomyopathy and stroke should lead to investigations for TTD. Although AIS secondary to cardiac embolism has been suggested, the aggressive course in our patient led us to speculate that additional factors inherent in TTD might have contributed.

PP04.7 – 2998: H1N1 cerebral vasculitis: A case report on 5 years old boy

Objective Report a case of a 5 years old boy, previously healthy, that few days after the diagnosis of H1N1 virus infection, began to develop neurological signs, characterized at first by left central facial palsy, followed two days later by complete left hemiparesis. There was severe drowsiness only on the first day. The pacient did not had seizures, speech disorders, nor altered mental status. Methods The pacient was submitted to a complete laboratory study that did not show abnormalities. The Cerebral Spinal Fluid did not shows abnormalities. The MRI demonstrated subacute ischaemic areas on right basal ganglia, parts of internal capsule, thalamus and corona radiata. The MRI Angiography demonstrated middle cerebral artery stenosis in the M1 segment and A1 stenosis of the anterior cerebral artery. Results After three weeks of the first neurological symptons, there was almost complete recovery of the neurological impairement, only observed by a discrete gait instability and reflex assimetry. A new MRI was performed three months later, that demonstrated gliosis in the white matter in right internal capsule, and basal ganglia. The MRI Angiography had become almst normal, with progressive recovery of the blood flow. He just received oral corticosteroid and antiplatelet therapy. Conclusion Reports of H1N1 with stroke secondary to cerebral vasculitis are rare and use to be related with immunization. Apparently, the prognosis suggests to the good, as we can observe by the progressive recovery dispite the first clinical signs and MRI abnormal findings. Maybe this viral cerebral vasculits can be compared with post-varicella cerebral vasculits on the prognosis and physiopatology, but more cases and investigation must to be done.

Paroxysmal Dystonia as a Manifestation of Multiple Sclerosis

Paroxysmal dystonia is a rare manifestation of multiple sclerosis (MS). A 41-year-old man presented to our Emergency Department with sudden and repeated episodes of left upper limb flexion and lower limb extension. His medical history included an episode of left facial palsy a year earlier. Neurological examination demonstrated only brisk deep tendon reflexes on the left upper limb. Routine blood and urine analyses were normal. Computed tomography of the brain and cervical Doppler were normal. Aspirin and sodium valproate were started, without improvement. Video-EEG monitoring revealed no electrographic abnormality synchronous with these paroxysmal events, excluding epileptic nature. Cerebral magnetic resonance imaging showed multiple T2 white matter lesions at the midbrain, right diencephalon, corpus callosum, cervical, and thoracic spinal cord. The right diencephalic lesion enhanced with gadolinium. Complete basic and immunologic analysis and serological studies were normal or negative. Oligoclonal bands were positive in cerebrospinal fluid (negative in serum). Methylprednisolone (1 g/d for 5 d) was started without clinical improvement. Carbamazepine (400 mg/d) was promptly effective, and discontinued after 1 month without recurrence. The patient met the criteria for the diagnosis of MS according to the 2010 McDonald criteria. The timely and accurate diagnosis of MS requires the recognition of its varied and atypical clinical manifestations.

OT-06 * MULTICENTRIC PRIMARY CENTRAL NERVOUS SYSTEM DIFFUSE LARGE B CELL LYMPHOMA IN AN INMUNOCOMPETENT ADOLESCENT, CASE REPORT

BACKGROUND: Primary central nervous system lymphoma (PCNSL) accounts for 4 to 7% of all primary intracranial neoplasms and 1 to 2% of all lymphomas. PCNSL incidence has increased tenfold over the last three decades in both immunocompetent and immunocompromised individuals. CASE REPORT: We present the case of a female adolescent with no risk factors for immunosuppression. Her immunological profile was normal. Her main symptom was headache two years before being diagnosed with a primary central nervous system diffuse large b cell lymphoma. Left ptosis, facial paralysis, disarthria and diplopia appeared one year later. She developed paresthesias in both hands with loss of strength. One month before she had seizures. In the magnetic resonance a multilobulated heterogeneous mass in left ventricule was found with high contrast enhancement. In spinal cord at C1-C2, an intramedular heterogeneous lesion was also observed. Stereotactic biopsy was done reporting CD20+ primary central nervous system diffuse large b cell lymphoma with reactive gliosis. Cerebrospinal fluid was negative. No viral association was detected. DISCUSSION: PCNSL are a rare malignant neoplasm in pediatric age, and more common in male. Worldwide, near fourteen cases are diagnosed each year. Most of these cases appear in immunocompromised patients. This is a special case because of the association of lymphoma in an immunocompetent girl. Clinical features differs in the evolution time which is longer than expected for a lymphoma. Radiological imaging suggests a multicentric presentation or a previous non-diagnosed disease. These cases suggests that lymphoma have a different clinical, radiological and histological presentation when the localization is in central nervous system. Malignant tumors have a non-predictable evolution in this tissue. Do we have to treat it in the same way?

Chronic lymphocytic leukemia relapse presenting as acute otitis media with facial palsy

ObjectiveTo describe a case of chronic lymphocytic leukemia relapses presenting as bilateral acute otitis media with left facial paralysis. MethodsCase report and review of the literature. IntroductionChronic lymphocytic leukemia is the most common leukemia in adults predominantly the elderly. Despite advances in treatment still chronic Lymphocytic leukemia is an incurable disease; relapse of leukemia may occur several months to years after a complete remission. Extramedullary manifestations of relapsed chronic lymphocytic leukemia (CLL) present with a wide range of symptoms and signs yet involvement of temporal bone is a rare presentation of the disease.9,10We present a patient who was diagnosed with chronic lymphocytic leukemia (CLL) who presented with bilateral acute otitis media and mastoiditis with left facial paralysis.

Nocardia farcinica Multiple Brain Abscesses in an Immunocompetent Patient

Background: Nocardiosis is a rare infection caused by Nocardia species, that usually causes a solitary abscess as the most common manifestation in the central nervous system. Nocardia farcinica appears more virulent than the other subspecies, and the infection generally occurs in immunocompromised patients. We describe a case of primary multiple brain abscesses from N. farcinica in an immunocompetent host. Case report: A 66-year-old immunocompetent man was admitted with a 6-week-history of night sweats and progressive fatigability followed by intermittent diplopia, left facial nerve palsy, aphasia, dysmetria, loss of balance, disorientation and drowsiness. He had no history of fever, headache, vomiting or seizures. Cerebral magnetic resonance imaging (cMRI) displayed multiple supratentotial lesions and a wide confluent ponto-mesencephalic hyperintensity on fluid-attenuated inversion recovery (FLAIR) images. Most of the lesions showed ring gadolinium enhancement and partially diffusion restriction. Mild pachymeningeal thickening and enhancement were also detected. The brain biopsy and the microbiological evaluation revealed branching gram-positive bacilli, confirmed as Nocardia farcinica. Because of hydrocephalus occlusus caused by the space-occupying brain stem lesion the patient required temporary external ventricular drainage. Treatment with intravenous imipenem and cotrimoxazole was administered for one month and consecutively oral cotrimoxazole was maintained, with substantial improvement of neurological conditions. Conclusions: CNS norcardial infections may manifest as multiple brain or spinal cord lesions, diffuse cerebral inflammation, and meningitis mimicking other neurological disorders, especially tumors, and possibly delaying diagnosis and treatment. The mortality rates estimated for multiple abscesses due to Nocardia farcinica are significant. This infection might progress despite a specific therapy and tend to relapse. Early identification, appropriate and prolonged treatment are crucial for a favorable outcome.

前庭核中心に plaque 病変を認めた多発性硬化症2例における視運動性眼振所見の継時的検討

Electronystagmography (ENG) findings were chronologically studied through the clinical courses in two multiple sclerosis patients (1 male and 1 female, both 25 years of age). At the initial bout, they showed left facial palsy and horizontal gaze nystagmus. The MRI demonstrated a single plaque lesion around the left vestibular nuclei at the ponto-medullary junction in both cases. In ENG recordings of both cases, the slow phase velocities of optokinetic nystagmus (OKN) were severely attenuated bilaterally at onset. In contrast, the smooth pursuit was relatively preserved in both cases through their clinical courses. In several months activities of daily living had recovered to normal. In accordance with their recovery, the OKN finally improved to the normal level in both cases. The Present ENG studies showed a definite dissociation between eye movements of pursuit and optokinetic systems. In Cohen and Raphan's model, the slow phase eye velocity of OKN is comprised of two components: the “direct pathway” involving the flocculus, which is the mechanism responsible for the rapid rise in slow phase eye velocity and is also utilized in mediating ocular pursuit. The second component is the “indirect pathway” which is responsible for producing slow phase eye velocity during vestibular nystagmus, OKN, and optokinetic after-nystagmus (OKAN). A key element in the indirect pathway is velocity storage, which is closely related to the mechanism of the vestibular nuclei. Although the neural circuits that produce velocity storage remain unclear, our previous experimental studies demonstrated that microstimulation mainly in the central medial vestibular nuclei (MVN) of monkeys elicited horizontal nystagmus and after-nystagmus related to velocity storage. Furthermore, after microinjection of muscimol (a GABA-A agonist) into the stimulus effective sites in the MVN, the slow component of OKN, the dominant time constant of aVOR and OKAN transiently disappeared bilaterally. These findings suggested that the horizontal velocity storage is generated in the MVN. The results of our present ENG studies were quite coincident with those of our previous experimental studies. Consequently, in both cases in the present study, it was assumed that the “indirect pathway” was transiently disturbed by the plaque lesion around the VN. In addition, two important points were particularly emphasized. First, the neural networks related to the horizontal velocity storage should be situated at the restricted area of the MVN, mainly the central MVN. Second, a single unilateral vestibular lesion caused a deficit in the horizontal velocity storage in both directions, in a similar manner to the results of studies in the MVN on a single experimental lesion. In conclusion, the findings of the present study and previous studies suggest that the horizontal velocity storage is generated in similar neural circuits of the human vestibular nuclei.

Metastatic extrapulmonary small cell carcinoma to the cerebellopontine angle: a case report and review of the literature.

Extrapulmonary small cell carcinomas (EPSCC) are rare malignancies with poor patient prognoses. We present the case of a 63-year-old male who underwent surgical resection of a poorly differentiated small cell carcinoma, likely from a small intestinal primary tumor that metastasized to the cerebellopontine angle (CPA). A 63-year-old male presented with mild left facial paralysis, hearing loss, and balance instability. MRI revealed a 15 mm mass in the left CPA involving the internal auditory canal consistent with a vestibular schwannoma. Preoperative MRI eight weeks later demonstrated marked enlargement to 35 mm. The patient underwent a suboccipital craniectomy and the mass was grossly different visually and in consistency from a standard vestibular schwannoma. The final pathology revealed a poorly differentiated small cell carcinoma. Postoperative PET scan identified avid uptake in the small intestine suggestive of either a small intestinal primary tumor or additional metastatic disease. The patient underwent whole brain radiation therapy and chemotherapy and at last follow-up demonstrated improvement in his symptoms. Surgical resection and radiotherapy are potential treatment options to improve survival in patients diagnosed with NET brain metastases. We present the first documented case of skull base metastasis of a poorly differentiated small cell carcinoma involving the CPA.

ED-01 * MEDULLOBLASTOMA PRESENTING AS AN INTRACRANIAL HEMORRHAGE

CASE REPORT: Children with medulloblastoma usually present with ataxia, nystagmus, dysmetria, intention tremor, cranial nerve deficits or signs of elevated intra-cranial pressure. On MRI a midline non-homogenously enhancing lesion is seen often with associated brainstem compression, ventricular dilatation and transependymal CSF migration. We describe a 12 year old child who presented with dizziness, emesis, neck pain and occipital headache resulting from minor head trauma on the preceding day. Past history included recent onset intermittent diplopia corrected with lenses. Neurological examination was normal except for mild left hearing loss and decreased visual acuity. CT scan at admission revealed an acute subarachnoid hemorrhage in the left cerebellopontine angle (CPA) extending through the left foramina of Luschka and Magendie and compressing the adjacent cerebellum and brainstem. MRI /MRA/Cerebral angiogram did not uncover any underlying pathology. After observation for 3 days he was discharged with residual mild left hearing loss and left horizontal nystagmus. On follow up four months later he was found to have lost all hearing (left) and had difficulty with balance. MRI showed a 2.8 x 2.6 x 2.4 cm left CPA mass hypo-intense on T1 with hyperintense foci on T2. The mass extended into the internal auditory canal and compressed the brainstem without causing hydrocephalus. A peri-lesional hemorrhagic stain was observed. On repeat review of an MRI performed 2 months earlier the mass was noted to be present measuring 1.5 x 1.1 x 1.2 cm. Spinal cord MRI was negative. Gross total resection of the mass was complicated by left facial nerve palsy and severe obstructive hydrocephalus requiring temporary EVD placement. The patient is on treatment for medulloblastoma (classic histology/WNT subgroup).Hearing loss persists but his 7th CN palsy is improving. We seek to highlight that on MRI an acute intracranial hemorrhage can camouflage a neoplastic process.

Pituitary tumors and pyramidal syndrome

Giant pituitary tumors (≥ 4 cm in diameter) are more frequent in men. Their main manifestations are headaches with sexual and visual troubles. But, sometimes they can have severe neurological complications, such as psychiatric troubles, hydrocephalus, memory troubles, meningitis, and epilepsy. To our best knowledge, pyramidal and cerebellar syndromes are exceptional. Our aim was to describe two men with giant PT associated to pyramidal syndrome with or without the cerebellar one. Case 1 A 38 years old man was sent for a large prolactinoma infiltrating the cerebellum [Prolactin = 376 ng/ml, tumor size: 61 mm (height), 50 (transverse diameter) and 81 (antero posterior diameter)] with gonadal deficit and uncommon neurological signs, such as right central facial paralysis, pyramidal syndrome in lower and upper limbs, dysarthria and static and kinetic cerebellar syndrome. Neurological symptoms and signs, which began one year ago, disappeared miraculously two weeks after starting bromocriptine and reduction in the tumor size. He is now speaking, walking and working normally. Case 2 A man aged 63, suffering from right hemi paresis for two years and recent vomiting was sent to our department for a non functioning PT (42 × 35 × 60) with hydrocephaly. On clinical examination apart from pituitary insufficiency, he had left facial paralysis and pyramidal syndrome. Cerebral MRI showed a multidirectional tumor with hydrocephalus and invasion of cerebral trunk. Conclusion Both PT has an important invasion of the brainstem, which explains pyramidal, and cerebellar syndromes. Those tumors need to be recognized as they are life threatening.

ALARM BELLS RINGING FOR MELKERSSON-ROSENTHAL SYNDROME?

Melkersson-Rosenthal Syndrome (MRS) is a rare mucocutaneous disorder, characterised by a clinical triad of facial nerve palsy, facial oedema, and tongue furrowing (lingua plicata). We present the case of a...

A Rare Case of Vertebrobasilar Dolichoectasia Presenting with Ipsilateral Facial Paresis and Concomitant Severe Sensorineural Hearing Loss

Objective: To report a case of vertebrobasilar dolichoectasia presenting with ipsilateral facial nerve paresis and concomitant severe sensorineural hearing loss.
 
 Methods:
 Design: Case Report
 Setting: Secondary Government Hospital
 Patient: One
 
 Results: We report a case of vertebrobasilar dolichoectasia with concomitant ipsilateral facial nerve paresis and severe sensorineural hearing loss in an elderly female. She presented to us with left facial nerve palsy House-Brackmann Grade III with prior history of ipsilateral sensorineural hearing loss. MRI of the brain showed normal inner ear structures, but revealed a dilated and tortuous basilar artery with compression on the left medulla and possible branches of anterior inferior cerebellar artery as it coursed superiorly, and possible partial thrombosis of proximal basilar artery. 
 
 Conclusion: Concommitant facial nerve paresis and sensorineural hearing loss can be the clinical presentations of this rare but important condition. MRI is vital in diagnosing vertebrobasilar dolichoectasia.
 
 Keywords: Vertebrobasilar dolichoectasia, facial nerve palsy, sensorineural hearing loss, basilar artery

Primary Cholesteatoma of Petrous Bone: A Case Report

Introduction: Cholesteatoma of the petrous bone is a rare pathology that grows slowly and is often asymptomatic. Material and Methods: The clinical records of a patient with congenital petrous bone cholesteatome managed surgically in our department were reviewed retrospectively. Results: A 57-year-old man was referred to our department with a 1-month history of sudden left total facial nerve palsy. He has a 30 years history of left-sided hearing disturbance without otorrhea. On physical examination, he showed a normal tympanic membrane, vestibular function was normal, facial examination presented a facial nerve paralysis of grade VI. The audiogram revealed severe sensorineural hearing loss on one side. CT scans revealed a soft tissue density lesion that extended widely from the anterior tympanic cavity to the petrous bone. MRI revealed a lobulated mass with its center at the petrous temporal bone. The lesion had low signal intensity on T1WI images and high signal intensity on T2WI images. We diagnosed a congenital cholesteatoma of the left petrous bone origin and performed surgery. We performed a translabyrinthine approach. The patient's postoperative cochlear function was not preserved. Course was uncomplicated. Conclusion: Congenital cholesteatoma is suggested to arise from epithelial cell rest within the temporal bone. Its slow silent growth may remain asymptomatic for years and cause delay in treatment. It may also involve all the vital anatomical structures within the temporal bone.

Treatment of Bell's Palsy Using Monochromatic Infrared Energy: A Report of 2 Cases

ObjectiveThe purpose of the study is to describe the use of monochromatic infrared energy (MIRE) therapy in the management of 2 patients with Bell's palsy. Clinical featuresTwo patients presented to a chiropractic clinic with Bell's palsy that was diagnosed by a medical physician. Both patients were treated using MIRE. The acute patient was a 32-year-old male. He presented with left facial palsy 1 day before the consultation. He was unable to puff the left cheek and close the left eyelid. He had difficulty raising the left eyebrow. The chronic case was a 46-year-old lady. Prior to the first consultation, she was treated with corticosteroid and electro-acupuncture for one and a half years, with incomplete recovery. When first seen, the left corner of mouth drooped and she had difficulty raising her left eyebrow. Intervention and outcomeMonochromatic infrared energy therapy, emitting 890 nm infrared light, was placed on the post-auricular area, pre-auricular area, the temple and mandibular area of the affected side. Each treatment lasted 30 minutes. Photographs were taken every week to document changes. The acute case received 19 treatments in 6 weeks. He reported an improvement of 95%. The chronic case received a total of 45 treatments in 9 months. She rated an improvement of 50%. At the conclusion of treatment, she was able to close her left eyelid and puff her left cheek but still could not raise her left eyebrow. ConclusionThese 2 patients seemed to respond to a different degree to the MIRE therapy. As 71% of patients with Bell's palsy recover uneventfully without any treatment, the present study describes the course of care but cannot confirm the effectiveness of MIRE therapy in the management of Bell's palsy.

Otalgia, Facial Nerve Paralysis, and Hearing Loss

Awoman in her 40swas referred for an 8-day history of left facial nerve paralysis, left-ear hearing loss, and vertigo. Three days after her paralysis started, she noticed left ear painwith clear discharge. She had no prior episodes of hearing loss or imbalance, and there was no significant medical history. Findingsfromthepatient’sphysicalexaminationwerenotablefor acomplete left facialparalysis (House-Brackmanngrade6/6)anderythematous skin in the left external auditory canal and conchal bowl withmultiple lesionsthathadcrustedover (Figure,A[unaffectedear] andB [affectedear]).Her tympanicmembranewas intact, and there was no middle ear effusion. Audiometric evaluation revealed mild asymmetric left sensorineural hearing loss with a word recognition score of 92% for the left ear and 100% for the right ear. Because of thisasymmetry,magnetic resonance imaging(MRI)of the internalauditorycanalswithgadoliniumcontrastwasperformed.AnaxialpostgadoliniumT1-weighted sequencewith fat suppression revealedenhancement of the left facial nerve within the internal auditory canal andfallopiancanal (Figure,C).The left cochlearandvestibularnerves were also enhancing, as well as the left basal turn of the cochlea. What is your diagnosis? A

Parálisis facial periférica congénita familiar

Objetivo: Investigar un grupo familiar de cuatro generaciones con 29 personas, donde se pesquisó 9 casos de parálisis facial periférica en 2 generaciones. Lugar: Servicio de Neurofisiología del Hospital Nacional Guillermo Almenara Irigoyen. Material y Métodos: En 7 pacientes de los 9 (5 varones y 2 mujeres) se realizó examen clínico neurológico y estudios electrofisiológicos (EMG y VCN), otorrinolaringológicos, radiológico, electroencefalográfico, dermatoglífico y de laboratorio. Resultados: Se evidenció un caso de parálisis facial periférica derecha en la segunda generación y 6 casos con parálisis facial periférica izquierda en la tercera generación, todos asociados a enuresis prolongada desde el nacimiento. Conclusiones: La evaluación realizada en un pedigree conformado por 29 personas, determinó que 9 de ellas eran portadoras de neuropatía facial periférica de tipo familiar con carácter hereditario, que podría ser dominante con penetrancia reducida.