Symptoma

Brown-Vialetto-Van Laere Syndrome

We present 3 patients identified at 2 different institutions with Brown-Vialetto-Van Laere syndrome. Each patient was initially diagnosed with a neuroimmune disorder for a period of a few weeks to a few months. [ncbi.nlm.nih.gov]

Figure 1 Number of patients by age of presentation. Natural history Presenting age The age at presentation was known for 69 patients with a mean of 8.2 years (median 9, range 0.3-17, SD 5.2). [doi.org]

  • Fatigue

    We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition. Last updated: January 31, 2019 [patientslikeme.com]

  • Hypoventilation

    One child presented with isolated central apnea and hypoventilation, not previously described in genetically confirmed Brown-Vialetto-van Laere, later complicated by diaphragmatic paralysis secondary to phrenic nerve palsy. [ncbi.nlm.nih.gov]

    Clumsiness ; Cranial nerve motor loss ; Diaphragmatic weakness ; Dysphagia ; External ophthalmoplegia ; Facial palsy ; Hand muscle atrophy ; Juvenile onset ; Knee clonus ; Kyphosis ; Muscular hypotonia ; Myopathic facies ; Neck muscle weakness ; Nocturnal hypoventilation [mousephenotype.org]

  • Exertional Dyspnea

    The patient developed progressive exertional dyspnea, with clinical and laboratory findings of right-sided heart failure and pulmonary hypertension. [ncbi.nlm.nih.gov]

  • Heart Failure

    The patient developed progressive exertional dyspnea, with clinical and laboratory findings of right-sided heart failure and pulmonary hypertension. [ncbi.nlm.nih.gov]

  • Fasciculation of the Tongue

    Major features of BVVL include facial and neck weakness, fasciculation of the tongue, and neurological disorders from the cranial nerves. [en.wikipedia.org]

    […] of the tongue, and neurological disorders from the cranial nerves ( Prahbu 2005 ). [ipfs.io]

  • Hearing Impairment

    We describe a case of Brown-Vialetto-Van Laere syndrome with strong family history for sensorineural hearing impairment. The patient came to our medical attention for severe respiratory failure and leg weakness. [ncbi.nlm.nih.gov]

    impairment ; Stridor ; Tongue atrophy ; Tongue fasciculations ; Vocal cord paralysis ; Weak voice Associated Genes SLC52A3 (Withdrawn symbols: C20orf54, RFVT3, bA371L19.1, hRFT2 ) Mouse Orthologs Slc52a3 (Withdrawn symbols: 2310046K01Rik ) Source OMIM [mousephenotype.org]

    She attends a school for hearing-impaired children. [doi.org]

    Very rarely, affected cases do not appear to develop deafness, presumably because these individuals die before the hearing impairment develops [ 9 ]. [ojrd.biomedcentral.com]

  • Tinnitus

    The first symptoms appeared at the age of 18 years with tinnitus, weakness and unsteadiness that progressed over the course of a few weeks to deafness, blurring of vision, dysphagia, and dysarthria. [ncbi.nlm.nih.gov]

  • Neck Muscle Weakness

    muscle weakness ; Nocturnal hypoventilation ; Peripheral neuropathy ; Progressive ; Proximal muscle weakness ; Ptosis ; Recurrent respiratory infections ; Respiratory distress ; Respiratory insufficiency ; Scoliosis ; Sensorineural hearing impairment [mousephenotype.org]

  • Auditory Hallucination

    Non-neurological symptoms can include diabetes, auditory hallucinations, respiratory difficulties, color blindness, and hypertension. The disorder has been associated with various mutations in the SLC52A2 and SLC52A3 genes. [en.wikipedia.org]

    Neurological symptoms of BVVL include optic atrophy, cerebellar ataxia, retinitis pigmentosa, epilepsy and autonomic dysfunction. [6] Non-neurological symptoms can include diabetes, auditory hallucinations, respiratory difficulties, color blindness, and [ipfs.io]

    Other non-neurological features that have been reported include auditory hallucinations [ 2 ], behavioral changes [ 27 ], color blindness [ 20 ], diabetes insipidus [ 1 ], delayed puberty and hypogonadism [ 16 ], dysmorphic features [ 25 ], gynecomastia [doi.org]

  • Ataxia

    Conclusion: Brown-Vialetto-Van Laere syndrome is a potential treatable disease with the main symptoms ataxia, optic atrophy, sensorineural deafness, and facial palsy. [thieme-connect.com]

    We present the case of a male who presented at the age of 5 years with sensorineural deafness, as well as those of 2 infant sisters who presented at 11 and 13 months of age with weakness and ataxia, respectively. [ncbi.nlm.nih.gov]

    She developed progressive bilateral ptosis, and gait ataxia over 2 months, and experienced several episodes of choking in the week prior to the presentation. [doi.org]

    BVVLS is characterized by cranial neuropathies, pontobulbar palsy, sensorimotor neuropathy manifesting with sensory ataxia, weakness of upper limbs and axial muscles, with preserved strength of lower limbs, optic atrophy, sensorineural hearing loss, and [pediatricneurologybriefs.com]

  • Clonus

    Brown-Vialetto-Van Laere Syndrome 1 Synonyms BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS, PONTOBULBAR PALSY WITH DEAFNESS Classification developmental, genetic, neurological, otorhinolaryngological Phenotypes Abnormal cerebellum morphology ; Ankle clonus [mousephenotype.org]

    […] examination demonstrated anarthria, bilateral near complete ptosis (left worse than right), facial diplegia, weak gag reflex, mild generalized weakness, mild spasticity of lower extremities with no contractures, symmetric brisk deep tendon reflexes with ankle clonus [doi.org]

    Upper motor neuron (UMN) involvement, for example brisk reflexes, clonus and extensor plantar responses, is less frequent [ 5 – 11, 13, 14, 19 – 26 ]. [ojrd.biomedcentral.com]

  • Cranial Neuropathy

    BVVLS is characterized by cranial neuropathies, pontobulbar palsy, sensorimotor neuropathy manifesting with sensory ataxia, weakness of upper limbs and axial muscles, with preserved strength of lower limbs, optic atrophy, sensorineural hearing loss, and [pediatricneurologybriefs.com]

    A number of individuals with cranial neuropathy and sensorimotor neuropathy respiratory insufficiency have not had pathogenic variants identified using exome sequencing and Sanger sequencing [Manole unpublished data]. [ncbi.nlm.nih.gov]

  • Neurologic Manifestation

    The neurological manifestations develop insidiously: they usually begin with sensorineural deafness, progress inexorably to paralysis, and often culminate in respiratory failure. [en.wikipedia.org]

  • Motor Symptoms

    Herein, we report a man with BVVLS who had a longer than expected interval between onset of deafness and other motor symptoms that culminated to diagnosis. Six years later, he had gradual worsening and death. [ncbi.nlm.nih.gov]

  • Hypercapnia

    Cor pulmonale is a complication of hypoventilation-induced hypoxia and hypercapnia and had not yet been reported in BVVLS. [ncbi.nlm.nih.gov]

  • Gliosis

    Autopsy disclosed bilateral neuronal loss and gliosis in the inferior colliculi, locus coeruleus and facial and vestibular nuclei. [ncbi.nlm.nih.gov]

The infant fully recovered after riboflavin treatment[ 10, 11 ]. [doi.org]

[…] of a woman that had BVVL and showed improvement after such treatments. [en.wikipedia.org]

Treatment with steroids or intravenous immunoglobulin may result in temporary stabilization of the syndrome. [ncbi.nlm.nih.gov]

Because of this condition’s potentially rapid progression and poor prognosis, prompt clinical recognition of BVVL and institution of high dose riboflavin could be life saving. Disclosure: Dr. Naik has nothing to disclose. Dr. [neurology.org]

With prompt treatment the prognosis may be positive with some patients stabilizing and even major improvements noted in certain cases. [en.wikipedia.org]

Prognosis The clinical course of BVVL can vary from one patient to another. [ipfs.io]

[…] motor movements multiple neuritis multiple sclerosis muscles myelitis nervous nucleus nystagmus occur onset optic optic neuritis pain paralysis paralyzed paraplegia patient peripheral Poliomyelitis pons posterior posterior horn pressure primary produce Prognosis [books.google.com]

Prognosis The clinical course of BVVL is variable in the 58 cases reported in the literature (Additional file 1 ). [doi.org]

In other cases autoimmune etiologies have been suggested (Sztajzel et al. 1998). No treatment other than supportive treatment is known. Cases of this syndrome are generally reportable. References: Aydin, O. F., D. Ozcelikel, N. [dizziness-and-balance.com]

Keywords Obstructive Sleep Apnea Amyotrophic Lateral Sclerosis Spinal Muscular Atrophy Central Sleep Apnea Right Bundle Branch Block Definition The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder of unknown etiology, characterized [doi.org]

Brown-Vialleto-Van Laere Syndrome – BVVL- (MIM 211530), also called "Progressive Pontobulbar Palsy with Deafness" or "Bulbar Hereditary Neuropathy type I", is a rare entity with obscure etiologic aspects and several types of inheritance. [psiquiatriainfantil.com.br]

Epidemiology As of 2015, there are approximately 70 known cases of Brown-Vialetto-Van-Laere syndrome worldwide. [1] BVVL was first described in a Portuguese family, and has since been described in a number of ethnic groups. [ipfs.io]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.de]

Epidemiology Fifty-eight cases of BVVL have been reported in just over a century (Additional file 1 ). Around half of all cases are sporadic [ 4 ]. [doi.org]

I thought the pathophysiology of the disorder is interesting. The genetic malfunction doesn’t allow for the efficient uptake of vitamin B2, which causes the above symptoms to progress until death within approximately a year of the first symptoms. [briavarner.wordpress.com]

However, since 2010 insights into the pathophysiology, genetics and treatment of this disorder have increased tremendously. [doi.org]

Milder phenotypes do occur, but rarely present past the third decade. 1, 2 Despite its first description in 1894, only recently has an understanding of the genetic and pathophysiological basis for BVVL opened the opportunity for therapeutic intervention [pn.bmj.com]

Their last hope was to try precision medicine which is an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person. Dr. [raredr.com]

Duke Health advances these frontiers through state-of-the-art clinical care, health promotion and disease prevention, breakthrough basic and clinical research, and educational experiences that prepare the next generation of health leaders. [dukeforward.dukemedicine.org]

National Birth Defects Prevention Study: maternal dietary nutrient intake and risk of preterm delivery. [ncbi.nlm.nih.gov]