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]

• Progressive Dysphagia

  Case presentation A 35-year-old British woman presented with a 6-week history of progressive dysphagia, dysphonia, dyspnoea, weight loss, gait disturbance and arm weakness. [pn.bmj.com]

• 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]

  […] with ample fasciculations of the tongue in our female patient are consistent with the diagnosis of the BVVL syndrome. [pediatricneurosciences.com]

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; Stridor ; Tongue atrophy ; Tongue fasciculations ; Vocal cord paralysis ; Weak voice Associated Genes SLC52A3 (Withdrawn symbols: C20orf54, RFVT3, bA371L19.1, hRFT2 ) Mouse Orthologs Slc52a3 (Withdrawn symbols: 2310046K01Rik ) Source OMIM [mousephenotype.org]

  The other four cases reported in our country were female, all sporadic with negative family history and presented with bilateral hearing loss. [4] However, in few studies other findings were preceding the hearing impairment, as Sathasivam et al. reported [pediatricneurosciences.com]

  Her respiratory effort had improved, but sensorineural hearing loss remained unchanged. She attends a school for hearing-impaired children. [doi.org]

  Key words: Brown-Vialetto-van Laere syndrome, autosomal recessive inheritance, hearing impairment. RESUMO Descrevemos a primeira família brasileira com síndrome de Brown-Vialetto-van Laere. [psiquiatriainfantil.com.br]

• Neck Muscle Weakness

  Dysphagia ; External ophthalmoplegia ; Facial palsy ; Hand muscle atrophy ; Juvenile onset ; Knee clonus ; Kyphosis ; Muscular hypotonia ; Myopathic facies ; Neck muscle weakness ; Nocturnal hypoventilation ; Peripheral neuropathy ; Progressive ; Proximal [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. [experts.umn.edu]

  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]

• 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]

• Foot Drop

  Outcome and follow-up Her motor functions steadily improved over 5 weeks such that at discharge she could walk short distances unaided with ankle–foot orthoses for bilateral foot drop and mild weakness of her intrinsic hand muscles. [pn.bmj.com]

• 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]

• Behavior Problem

  Initial symptoms started at 3 years of age with ataxia, chaotic eye movements, speech arrest, and behavioral problems, later, we observed sensorineural deafness, optic atrophy, and a facial palsy. [thieme-connect.com]

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]

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]

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]

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

What is the prognosis for Brown-Vialetto-Van Laere syndrome? The rate of progression of the disease varies from person to person. [facialpalsy.org.uk]

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]

The BVVL syndrome is a rare neurological disorder of unknown etiology, characterized by progressive pontobulbar palsy associated with sensorineural deafness. [1] The sensorineural hearing loss with progressive weakness and atrophy in upper limbs and tongue [pediatricneurosciences.com]

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]

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]

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 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]

The data retrieved through codification can also be used in much-needed rare disease clinical research and also for national healthcare services to better perform epidemiological studies and to better plan their services. [eurordis.org]

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]

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]

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

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]