WordNet

an impairment of health or a condition of abnormal functioning
caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

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(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
女性の話術芸人 =diseur
病気にかかった / 病的な,不健全な(morbid)

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/04/18 20:14:38」(JST)

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Fazio-Londe disease, also called progressive bulbar palsy of childhood,^[1]^[2] is an inherited motor neuron disease found in children and young adults.

Progressive bulbar palsy is characterized by progressive paralysis of muscles innervated by cranial nerves.

Signs and symptoms

It produces rapidly progressive weakness of tongue, face and pharyngeal muscles in a clinical pattern similar to myasthenia bulbar palsy. Neuromuscular transmission may be abnormal in these muscles because of rapid denervation and immature reinervation, and strength may improve with administration of cholinesterase inhibitors. Paralysis occurs secondary to degeneration of the motor neurons of the brain stem. It causes progressive bulbar paralysis due to involvement of motor neurons of the cranial nerve nuclei. The most frequent symptoms at onset of progressive bulbar paralysis of childhood has been a unilateral facial paralysis. It is followed in frequency by dysarthria due to facial weakness or by dysphagia. Palatal weakness and palpebral ptosis also have been reported in few patients. Both sexes can be affected.

It has been proposed that Fazio-Londe disease and Brown-Vialetto-Van-Laere syndrome are a phenotypically associated condition.^[3]

Prognosis

Onset of first symptom has been reported between 1–12 years, with a mean age of onset at 8 years. Genetic expression is either an autosomal dominant or an autosomal recessive type. Clinical course can be divided into early (< 6 yrs age, predominance of respiratory symptoms) and late course (6–20 years of age, predominance of motor symptoms on superior limbs). Progression to involve other cranial nerve muscles occurs over a period of months or years. In the Gomez review facial nerve was affected in all cases while hypoglossal nerve was involved in all except one case. Other cranial nerves involved were vagus, trigeminal, spinal accessory nerve, abducent, occulomotor and glossopharyngeal in this order. Corticospinal tract signs were found in 2 of the 14 patients.

The disease may progress to patient's death in a period as short as 9 months or may have a slow evolution or may show plateaus. Post mortem examination of cases have found depletion of nerve cells in the nuclei of cranial nerves. The histologic alterations found in patient with Fazio-Londe disease were identical to those seen in Werdnig-Hoffman syndrome. Fazio-Londe disease, infantile progressive spinal muscular atrophy (Werdnig-Hoffman syndrome), Juvenile progressive spinal muscular atrophy (Kugelberg-Welander disease), Brown-Vialetto-Van Laere syndrome (BVVL) and the juvenile type of slowly progressive bulbar palsy, all have been considered variants of chronic progressive disease of lower motor neurons.

To date, there is no test of confirmation for Fazio-Londe disease, although researchers are currently searching to isolate the responsible gene.[1]

History

Berger, in 1876, first reported a case of 12-year-old child with progressive bulbar paralysis. From India, Reddy and Murthy first reported a Fazio-Londe disease case in 1982. Until now only 31 cases have been published in the literature.^{[citation needed]}

Eponym

It is named for E. Fazio and Paul Londe.^[4]^[5]

References

^ Online 'Mendelian Inheritance in Man' (OMIM) 211500
^ "progressive bulbar palsy of childhood" at Dorland's Medical Dictionary
^ Dipti S, Childs AM, Livingston JH, et al. (September 2005). "Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease". Brain Dev. 27 (6): 443–446. doi:10.1016/j.braindev.2004.10.003. PMID 16122634.
^ synd/1909 at Who Named It?
^ Londe, P. Paralysie bulbaire progressive, infantile et familiale. Rev. Med. 14: 212-254, 1894.

External links

470155312 at GPnotebook

English Journal

Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: An autopsy case.

Chiba Y, Komori H, Takei S, Hasegawa-Ishii S, Kawamura N, Adachi K, Nanba E, Hosokawa M, Enokido Y, Kouchi Z, Yoshida F, Shimada A.SourceDepartment of Pathology, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Japan.
Neuropathology : official journal of the Japanese Society of Neuropathology.Neuropathology.2013 May 27. doi: 10.1111/neup.12047. [Epub ahead of print]
Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage disorder. Two disease-causing genes (NPC1 and NPC2) have been identified. NPC is characterized by neuronal and glial lipid storage and NFTs. Here, we report a man with juvenile-onset progressive neurological defi
PMID 23711246

Surgical treatment of severe blepharoptosis and facial palsy caused by oculopharyngodistal myopathy.

Shimizu Y, Suzuki S, Mori-Yoshimura M, Nagasao T, Toriumi M, Oji T, Murata M, Kishi K.SourceDepartment of Plastic and Reconstructive Surgery, Keio University School of Medicine, Shinjuku-ku, Tokyo 160-8582, Japan. Electronic address: yyssprs@gmail.com.
Journal of plastic, reconstructive & aesthetic surgery : JPRAS.J Plast Reconstr Aesthet Surg.2013 Apr 18. pii: S1748-6815(13)00170-8. doi: 10.1016/j.bjps.2013.03.034. [Epub ahead of print]
Oculopharyngodistal myopathy is an extremely rare disease characterised by slowly progressive blepharoptosis, facial and bulbar muscle weakness and distal leg myopathy. We report the case of a 72-year-old woman with severe bilateral blepharoptosis and facial palsy caused by oculopharyngodistal myopa
PMID 23602269

A case of myasthenia gravis presenting solely with bulbar palsy unassociated with easy fatigability.

Inoue M, Kojima Y, Kinboshi M, Nakagawa T, Kanda M, Shibasaki H.SourceDepartment of Neurology, Ijinkai Takeda General Hospital.
Rinshō shinkeigaku = Clinical neurology.Rinsho Shinkeigaku.2013;53(3):229-34.
A 69-year-old Japanese female was admitted because of progressive nasal voice and dysphagia. Neurological examination revealed paresis of the soft palate with marked dysphagia and rhinolalia. Otherwise there was no weakness or easy fatigability in extraocular muscles and extremities. On laboratory t
PMID 23524604

Japanese Journal

Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease

DIPTI Subrahmanian,CHILDS Anne-Marie,LIVINGSTON John H.,AGGARWAL A. K.,MILLER Mike,WILLIAMS Chris,CROW Yanick J.
Brain & development 27(6), 443-446, 2005-09-01
NAID 10019356528

Infantile progressive bulbar palsy with deafness

VOUDRIS Konstantinos A.,SKARDOUTSOU Angeliki,VAGIAKOU Eleni A.
Brain & development 24(7), 732-735, 2002-10-01
NAID 50000702816

小児進行性球麻痺(Fazio-Londe病)と思われた1症例

後藤友子 [他],杉山啓子,泉達郎,大沢真木子,GOTO Tomoko,SUGIYAMA Keiko,IZUMI Tatsuro,OSAWA Makiko
東京女子医科大学雑誌 47(1), p139-144, 1977-01
NAID 120002355929

Related Pictures

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