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]

Age at presentation varies from infancy to the 5th decade, affecting females more than males (3:1). [neurology.org]

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]

Burdach 1 1Kinderklinik München-Schwabing, Technische Universität München, Neuropädiatrie, München, Germany 2Institut für Humangenetik, Technische Universität München, München, Germany Congress Abstract Case: We present the case of a now 7-year-old girl [thieme-connect.com]

• Fatigue

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

• Cough

  Just before she turned 2 years old, she lost her hearing, her ability to walk, sit up, move any limbs, blink, swallow, cough, breath on her own or talk all in the space of a few weeks. We decided to give her a fighting chance for survival. [globalgenes.org]

  Her hearing was poor bilaterally, her cough was very weak and palatal elevation was greatly reduced. Her sternocleidomastoid and trapezius strength were normal but her tongue was severely weak, wasted and fasciculating. [pn.bmj.com]

• Gagging

  Exam showed a non-verbal girl with bilateral ptosis, facial diplegia, weak gag reflex, and ataxia. She was diagnosed clinically with probable BVVL. Metabolic testing including CSF and brain MRI were normal. [neurology.org]

  Clinically, there were bilateral facial weaknesss, atrophic tongue with fasciculations, poor gag reflex, deafness, axial and appendicular hypotonia, severe muscular weakness involving muscles of neck, shoulder, and upper arms, hands with thenar and hypothenar [ncbi.nlm.nih.gov]

  Examination demonstrated bilateral temporal optic paleness; best corrected visual acuity of 20/100, absent gag reflex, tongue fasciculation and proximal muscule weakness. [scielo.br]

  In the evaluation of cranial nerves, we observed atrophic tongue with ample fasciculations, poor gag reflex and palate weakness. Rinne and Weber tests were abnormal. There was no ptosis, no ocular movement impairment. [pediatricneurosciences.com]

• Fasciculation of the Tongue

  Neurologic involvement includes bulbar palsy, loss of cranial and spinal motor nerve function, wasting and fasciculation of the tongue, widespread muscle wasting with weakness and hypotonia most obviously in neck and lower limb girdle. [accessanesthesiology.mhmedical.com]

  […] 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]

  […] of the tongue, and neurological disorders from the cranial nerves.[3] The neurological manifestations develop insidiously: they usually begin with sensorineural deafness, progress inexorably to paralysis, and often culminate in respiratory failure. [en.wikipedia.org]

• Hearing Impairment

  Sensorineural hearing impair... [cags.org.ae]

  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]

• Progressive Hearing Loss

  The vertical nystagmus changed to chaotic eye movements and progressive hearing loss necessitated the usage of sign language. [link.springer.com]

  hearing loss of 6 years duration. [neurologyindia.com]

• Proximal Muscle Weakness

  Progressive muscle weakness developed nine years later. Examination demonstrated dysphonia, dysarthria, bilateral facial weakness, reduced gag reflex, tongue paresis and proximal muscle weakness more evident in the lower limbs. [scielo.br]

  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]

  His muscle biopsy revealed neurogenic atrophy and vitamin B12 levels were normal. Diagnosis of a variant of Spinal Muscular Atrophy was considered as the bulbar involvement was more prominent than proximal muscle weakness. [annalsofian.org]

  […] and atrophy of the upper limbs (first distally then proximally) Weakness of neck extensors and later trunk muscles Tongue fasciculations and atrophy with increased swallowing problems Respiratory insufficiency due to muscle weakness Other initial presenting [ncbi.nlm.nih.gov]

• 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]

• Suggestibility

  Our results suggest that BVVL patients with SCL52A3 mutations may be good candidates for riboflavin replacement therapy and suggests that either the mutations these individuals carry are hypomorphic, or that in these cases alternative transporters act [ncbi.nlm.nih.gov]

• 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]

  ataxia; Hypotonia; Areflexia; Se... [cags.org.ae]

  Exam showed a non-verbal girl with bilateral ptosis, facial diplegia, weak gag reflex, and ataxia. She was diagnosed clinically with probable BVVL. Metabolic testing including CSF and brain MRI were normal. [neurology.org]

• Limb Weakness

  This resulted in a dramatic improvement in her motor function from being anarthric, dysphagic, tetraparetic and in ventilatory failure to living independently with mild dysarthria and distal limb weakness. [ncbi.nlm.nih.gov]

  She had horizontal nystagmus and had ataxic and wide-base gait with decreased upper limb movement with no truncal ataxia. Romberg's test was positive only with eyes closed. Finger to nose test was not reliable due to upper limb weakness. [pediatricneurosciences.com]

  Other examples of nerve degeneration include vocal cord paralysis, ptosis (droopy eyelids), facial weakness, slurred speech, dysphagia (difficulty swallowing), visual difficulty secondary to optic atrophy, neck and shoulder weakness, limb weakness, autonomic [snpedia.com]

  Sensation was normal and coordination was difficult to assess with the severe limb weakness. [pn.bmj.com]

• Slurred Speech

  Some of the nerve problems include hearing loss, breathing problems, and slurred speech. Common symptoms reported by people with Brown-Vialetto-Van Laere syndrome Reports may be affected by other conditions and/or medication side effects. [patientslikeme.com]

  Other examples of nerve degeneration include vocal cord paralysis, ptosis (droopy eyelids), facial weakness, slurred speech, dysphagia (difficulty swallowing), visual difficulty secondary to optic atrophy, neck and shoulder weakness, limb weakness, autonomic [snpedia.com]

  Signs and symptoms may include vocal cord paralysis, drooping eyelids, facial weakness, slurred speech, difficulty swallowing, diminishing eye sight, neck and shoulder weakness, weakness in the arms and legs, autonomic dysfunction, and difficulty breathing [diseaseinfosearch.org]

  After this, the following examples of nerve degeneration develop: Vocal cord paralysis Droopy eyelids (ptosis) Facial, neck, and/or shoulder weakness Slurred speech Difficulty swallowing (dysphagia) Visual difficulty Autonomic dysfunction Respiratory [patientworthy.com]

  As a result of pontobulbar palsy, people with riboflavin transporter deficiency neuronopathy can have breathing problems; slurred speech; and muscle weakness in the face, neck, shoulders, and limbs. [medlineplus.gov]

• Tongue Paralysis

  Neurological examination she had tongue paralysis with widespread fasciculations, proximal muscle weakness more prominent in the lower limbs with normal deep tendon reflexes. There was no facial weakness. [scielo.br]

• Areflexia

  Hypotonia; Areflexia; Se... [cags.org.ae]

Molecular testing should be performed early to because high-dose riboflavin treatment can positively influence the course of the disease. [thieme-connect.com]

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

[…] in the absence of treatment. [pediatricneurosciences.com]

We therefore recommend that in all cases suspected to be in the BVVLS or Fazio-Londe spectrum, early treatment with high-dose riboflavin must be considered. [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]

[…] 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 can vary from one patient to another. [ipfs.io]

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 is variable in the 58 cases reported in the literature (Additional file 1 ). [doi.org]

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]

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]

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. [scielo.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]

The results are presented in epidemiology, pathogenesis, clinical features, diagnosis and differential diagnosis subtitles. [ismj.bpums.ac.ir]

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]

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 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 other two siblings showed symptoms of Fazio-Londe disease and died before the age of two.[12] Epidemiology[edit] As of 2015, there are approximately 70 known cases of Brown-Vialetto-Van-Laere syndrome worldwide.[2] BVVL was first described in a Portuguese [en.wikipedia.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]

Thus, genetically similar patients may harbor pathophysiological differences resulting in earlier and more severe disease. Our patient presented with a clinical feature compatible with BVVL syndrome. [pediatricneurosciences.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]

The Madras pattern of MND was another close differential presenting with wasting and weakness of limb muscles, sensory neural hearing loss, along with VII, IX and XII cranial nerve involvement.[8],[10] The exact pathophysiology of the neuropathy in BVVLS [neurologyindia.com]

Neuron Diseases 2006 This case shows that life-threatening respiratory failure can develop either at an early stage of Brown-Vialetto-Van Laere syndrome or after a period with unrecognized chronic respiratory failure, and demonstrates that failure to prevent [semanticscholar.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]

So, it is important to identify this disorder at the earliest to prevent progression. How to cite this article: Kranthi P, Garuda BR, Gopi S, Kumar T S. Brown–Vialetto–Van Laere syndrome: A rare case report of MND mimic. [neurologyindia.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]

In addition, there is still no evidence to reassure that treatment would prevent the occurrence of symptoms indefinitely. [ng.neurology.org]