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Neuhauser Syndrome

Megalocornea Mental Retardation Syndrome


Presentation

  • Thus, a thorough assessment for ophthalmological, neurological and endocrinological changes in patients presenting with one of the key features is recommended.[n.neurology.org]
  • We report on a patient affected by Neuhauser megalocornea-mental retardation (MMR) syndrome, presenting with most of the major manifestations of this disorder, in association with primary hypothyroidism and osteopenia.[ncbi.nlm.nih.gov]
  • Case presentation: Two sisters of a non-consanguineous family, presented to our genetics department with ataxia, primary amenorrhea and dysmorphic features.[epostersonline.com]
  • Chorioretinal dystrophy may not always be present.[malacards.org]
Short Stature
  • Some affected individuals experience growth delays ultimately resulting in short stature.[rarediseases.org]
  • Short stature, hypercholesterolemia, seizures and hypothyroidism have also been reported. Genetics No specific mutation has been found. Most cases occur sporadically.[disorders.eyes.arizona.edu]
  • The elder sister (index patient 1) had enopthalmous, strabismus, a thin upper lip and short stature 155cm.[epostersonline.com]
  • Other hormone abnormalities lead to short stature in some affected individuals. The third characteristic feature of Boucher-Neuhäuser syndrome is eye abnormalities, most commonly chorioretinal dystrophy.[ghr.nlm.nih.gov]
  • The other family members showed microcephaly, slight mental retardation, and short stature, but not chorioretinopathy.[healio.com]
Feeding Difficulties
  • Congenital hypothyroidism was diagnosed early; at the first month, the patient was hospitalized for feeding difficulties and severe hypotonia.[azdoc.site]
  • DIFFICULTIES, AND DELAYED BRAIN MYELINATION NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia Neurodevelopmental Disorder with Impaired[rgd.mcw.edu]
Fishing
  • […] mental retardation) and refractory epilepsy Síndrome MMMM (macrocefalia, megalocórnea, retardo mental e motor) e epilepsia refratária Adriana Marques de Mattos I ; Aluisio Dias Marques I ; Carla Patrícia Oliveira Parrela I ; Josephine Marie da Cunha Fish[scielo.br]
  • ., FISH J.M., ARTIGALAS O.A., RANZAN J., WINKCLER M.I., OHLWEILER L., RIESGO R. DOS S.: MMMM syndrome (macrocephaly, megalocornea, motor and mental retardation) and refractory epilepsy. Arq. Neuropsiquiatr., 2010, 68, 642-644. 5.[azdoc.site]
Macula
  • These early changes consisted of fine pigmentary alterations throughout the retina, with predominant involvement of the posterior pole and coarse pigmentation of the macula.[synapse.koreamed.org]
Corneal Opacity
  • Keratoplasty operation was done for the right eye owing to central corneal opacity.[ncbi.nlm.nih.gov]
Progressive Loss of Vision
  • Progressive loss of vision, dyschromatopsia, and photophobia are the primary ocular symptoms. Night blindness and constricted visual fields are noted by some patients. The ERG shows subnormal and sometimes absent photopic and scotopic responses.[disorders.eyes.arizona.edu]
  • At 12 years of age, he first noticed progressive loss of vision and photophobia in both eyes. The best-corrected visual acuity was 20/200 bilaterally.[synapse.koreamed.org]
Abnormal Eye Movement
  • People with Boucher-Neuhäuser syndrome can also have abnormal eye movements, including involuntary side-to-side movements of the eyes (nystagmus).[ghr.nlm.nih.gov]
Round Face
  • The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial wide, thin elongated mouth, big and protuded ear "cup", jaw undersized[ncbi.nlm.nih.gov]
  • Facial features included a round face, low frontal hairline, mild frontal bossing, broad nasal bridge, large corneas, mild hypertelorism, long upper lip, high palate, and small chin. She also had poor coordination.[omim.org]
Cryptorchidism
  • […] feeding difficulties (4, 7, 9, 29), cerebral hypomyelination (4, 5, 14, 18), dyslipidemia (14, 24, 27), sensorineural deafness (15, 17, 27), laryngomalacia (7, 29), large, fleshy, and cup-shaped ears (6, 9, 28), cardiopathy (7, 28), obesity (6, 9), and cryptorchidism[azdoc.site]
Secondary Amenorrhea
  • They had been treated for primary and secondary amenorrhea at the age of 20 years and neurological problems had started at the age of 30 years.[jlc.jst.go.jp]
Poor Coordination
  • In addition to eye abnormalities, affected individuals may also have neurological abnormalities including diminished muscle tone (hypotonia), delays in speech development, varying degrees of cognitive impairment, poor coordination and clumsiness, and[rarediseases.org]
  • Hypotonia, poor coordination and swallowing difficulties were present. One patient was obese and the other had scoliosis. Both had large fleshy ears and long fingers. The spectrum of the mental retardation megalocornea syndrome is not fully defined.[scinapse.io]
  • She also had poor coordination. Santolaya et al. (1992) concluded that hypotonia is a major feature of this syndrome. Antinolo et al. (1994) reported an isolated case of megalocornea, mental retardation, and hypotonia.[omim.org]
Scanning Speech
  • speech and cerebellar ataxia.[malacards.org]
  • Systemic Features: Difficulties with balance, intention tremors, and scanning speech are evident in adolescence or early adult life. Cerebellar ataxia is present in nearly 40 percent of individuals.[disorders.eyes.arizona.edu]
Involuntary Movements
  • Less often, additional neurological symptoms may occur including hyperactivity, seizures, and involuntary movements of the face, arms and legs (limbs), and trunk consisting of slow, continual, writhing movements (athetosis) occurring in association with[rarediseases.org]
  • MOVEMENTS NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination NEURODEVELOPMENTAL DISORDER[rgd.mcw.edu]
Trigeminal Neuralgia
  • neuralgia Triple X Syndrome triple-A syndrome Trisomy 18-Like Syndrome Trisomy 22 Mosaicism Syndrome Trueb Burg Bottani Syndrome Tsukahara Syndrome tuberculous peritonitis Tucker Syndrome Tukel Syndrome Tumor Lysis Syndrome Tumor Predisposition Syndrome[rgd.mcw.edu]
Profound Mental Retardation
  • Clinical Characteristics Ocular Features: This rare disorder is characterized by profound mental retardation and megalocornea together with nonspecific facial features including epicanthal folds, broad nasal root, frontal bossing and antimongoloid lid[disorders.eyes.arizona.edu]

Workup

  • Patients with hypoactive reflexes and glove and stocking hypoesthesia and hypalgesia will need a neuropathy workup.[checkorphan.org]
  • Previous workup included basic blood and urine as well as serologic, immunologic and broad metabolic studies that were all negative. Endocrine evaluation revealed prepubertal FSH, LH and estradiol levels.[epostersonline.com]
  • Workup Laboratory studies recommended in JS include urinalysis (for hematuria, proteinuria, defective urine concentrating capacity) and arterial blood gas ( ABG ) sampling (since hypoxia and hypercarbia in room air reflect severe restrictive lung disease[emedicine.medscape.com]

Treatment

  • Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]
  • Treatment Treatment Options: No treatment is available.[disorders.eyes.arizona.edu]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]

Prognosis

  • Diagnosis and Prognosis: This is probably a stable condition although too few cases have been reported to be certain. Diagnosis requires a multidisciplinary team.[disorders.eyes.arizona.edu]
  • Prognosis - Boucher Neuhauser syndrome Not supplied. Treatment - Boucher Neuhauser syndrome Resources - Boucher Neuhauser syndrome Omim.org/entry/215470[checkorphan.org]
  • Where this is successful, the prognosis is good. However, in 3-4% of cases, colonic perforation complicates the presentation 2 and this and its sequelae significantly increase both mortality and morbidity.[radiopaedia.org]
  • Dandy-Walker malformation: prenatal diagnosis and prognosis. Childs Nerv Syst. 2003, 19(78):484-9. 13. Boddaert N, Klein O, Ferguson N, Sonigo P, Parisot D, Hertz-Pannier L, et al.[arquivosdeorl.org.br]

Etiology

  • Use Additional Use Additional Help Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10data.com]
  • In fact, the largest group (BMD type 1) remains poorly characterized, since it is not associated with any particular clinical feature or etiological factor.[frontiersin.org]
  • CEP164 Nephronophthisis CEP250 recessive Usher syndrome CEP290/BBS14 Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndrome CERKL Retinitis pigmentosa CFH age-related macular degeneration, complex etiology[molecularvisionlab.com]
  • People do not experience other neurological deficits such as numbness or weakness, and if these symptoms are present, a more serious etiology, such as posterior circulation stroke or ischemia, must be considered.[en.wikipedia.org]
  • Megalocornea is also a feature of Neuhäuser or megalocornea-mental retardation (MMR) syndrome, a rare condition of unknown etiology.[journals.plos.org]

Epidemiology

  • One recent large epidemiological study estimates that as many as 35% of adults aged 40 years or older in the United States—approximately 69 million Americans—have experienced some form of vestibular dysfunction. 1 According to the National Institute on[vestibular.org]
  • Alberti KG, Zimmet P, Shaw J, IDF Epidemiology Task Force Consensus Group: The metabolic syndrome – a new worldwide definition. Lancet 2005; 366: 1059–62.[aerzteblatt.de]
  • "Epidemiological evidence for a link between vertigo & migraine". Journal of Vestibular Research. 21 (6): 299–304. doi : 10.3233/VES-2011-0423. PMID 22348934. Wicks, RE (January 1989). "Alternobaric vertigo: an aeromedical review".[en.wikipedia.org]
  • The association between long working hours and health: a systematic review of epidemiological evidence. Scand J Work Environ Health. 2014;40:5–18.[dmsjournal.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • Unlike others on this topic, this text demonstrates how the endoscope incorporates pathophysiology, diagnostic, and treatment modalities into endoscopic practice.[books.google.com]
  • This group may overlap with VM, and it may share common pathophysiological mechanisms ( 63 ).[frontiersin.org]
  • "Benign Paroxysmal Positional Vertigo (BPPV): History, Pathophysiology, Office Treatment and Future Directions". International Journal of Otolaryngology. 2011 : 1–13. doi : 10.1155/2011/835671. PMC 3144715.[en.wikipedia.org]
  • In: Bertrand J, Rappaport R, Sizonenko PC (eds) Pediatric endocrinology–physiology, pathophysiology, and clinical aspects.[link.springer.com]

Prevention

  • […] cup", jaw undersized (micrognathia) and abnormal posterior positioning of the mandible (retrognathia).The use of facial dysmorphism helps to delineate the phenotype and achieve the punctuation required for the diagnosis, allowing early management and prevention[ncbi.nlm.nih.gov]
  • Special chapters, such as the Designing Clinical Research in Gastrointestinal Endoscopy, The Prevention of Infection Following Gastrointestinal Endoscopy, Complications of Peptic Ulcer Disease, and Credentialing for Gastrointestinal Endoscopy, help make[books.google.com]
  • Prevention - Boucher Neuhauser syndrome Not supplied. Diagnosis - Boucher Neuhauser syndrome The wise clinician should consider a neurologic referral at the outset.[checkorphan.org]
  • In addition, in some cases, treatment with anticonvulsant drugs may help prevent, reduce, or control seizures potentially occurring in association with the disorder.[rarediseases.org]
  • She is currently serving on the Iowa Safe Schools Coalition, and bullying prevention is a passion of hers. Mari has a Bachelor’s degree from Grand View College in Psychology and Human Services.[askresource.org]

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