Aicardi ciwo: description, ganewar asali, ruwan dare.

Aicardi Syndrome - a rare hereditary cuta, wadda bayyana rashi na da tarin rubuce-rubuce callosum, farfadiya seizures da kuma canje-canje a cikin fundus. Bugu da kari, marasa lafiya sun jinkirta shafi tunanin mutum da kuma ta jiki ci gaba da kuma wani take hakkin da tsarin da fuska, ƙashi na daga cikin kwanyar.

labarin

A cikin shekaru 60 da karni na ashirin da Faransa neurologist Zhan Aykardi bayyana da dama lokuta da wannan cuta. Akwai baya nassoshi su a cikin likita adabi, amma sai suka kira a matsayin manifestations na nakasar kamuwa da cuta. Shekara bakwai bayan na farko bazawa na likita al'umma ya gabatar da wani sabon nosological naúrar - Aicardi ciwo.

Amma nazarin cutar ya ci gaba, da yawan cututtuka, har ma kumbura, sabon rassan fito. Alal misali, Aicardi-Hauterivian ciwo cewa bayyana encephalopathy tare da muhimmi ganglia calcification da leukodystrophy.

Yaduwar

Tun lokacin da na aikin fitarwa Aicardi ciwo neurologists gana game da ɗari biyar sau. Mafi yawan marasa lafiya ya zauna a Japan da sauran kasashen Asiya. A cewar Swiss masu bincike, da abin da ya faru na cuta - 15 lokuta da dubu ɗari yara. Abin baƙin ciki, statistics ne wata ila don rashin sanin cikakken farashi har na bada, kamar yadda mafi yawan marasa lafiya da ya rage unexplored.

Haka kuma cutar tasowa a cikin 'yan mata. Kuma likitoci yi imani da cewa shi ne hanyar da mafi yawan lokuta na bata lokaci na Psycho-physiological ci gaba da kuma infantile spasms.

jinsi

Aicardi ciwo - mai jima'i-nasaba cuta, da m gene aka located a kan X chromosome. Rajista uku lokuta a cikin abin da boys da Klinefelter ciwo da irin wannan bayyanar cututtuka. Domin 'ya'ya maza da wata al'ada genotype XY cuta ne m.

All lokuta bayyanar da wannan cuta ne sakamakon harben maye gurbi. Wannan shi ne, kafin iyali proband aka iske ba a lokuta da Aicardi ciwo. Canja wuri da m gene daga uwa zuwa 'yar ne mai wuya. A hadarin da na biyu yaro za a haifa tare da wannan cuta ne sosai kananan da kuma shi ne kasa da kashi daya.

Idan muka yi amfani da dokokin na Mendel, cewa biyu riga da daya dan da wannan cuta, kana da zaɓuɓɓuka masu biyowa:

• aurenmu yaro.
• lafiya yarinya (33%).
• m yaro (33%).
• rashin lafiya yarinya (33%).

A Sanadin cutar ne a halin yanzu ba a sani ba, bincike ne mai gudana.

mugun jin haltta

Masana kimiyya da kuma likitoci amfani da hanyoyi daban-daban domin saita Aicardi Syndrome. Photo da kwakwalwa Magnetic rawa Dabarar - daya daga cikin na kowa, amma don la'akari da dukan hoto mai yiwuwa ne kawai a autopsy. A lokacin nazarin kwakwalwa iya gane mahara munanan na na tsarin jijiya tube ci gaba:

• cikakken ko m rashi na tarin rubuce-rubuce callosum.
• canza a cikin wuri na cerebral bawo.
• mahaukaci matsayi na convolutions.
• cysts da serous ciki.

Microscopic jarrabawa ya nuna tafka magudi a cikin cell tsarin da ya shafi yankunan. A fundus kuma gabatar da halayyar canje-canje, kamar thinning na nama, rage yawan jini da kuma pigment, amma girma Cones da sanduna.

asibitin

Ta yaya za a iya duba yaran da Aicardi ciwo? A bayyanar cututtuka ne ba takamaiman isa a farkon, domin yara haife a lokaci, ta farji da kuma duba lafiya. Up zuwa watanni uku jarirai ci gaba ba na asibiti bayyanar cututtuka, sa'an nan akwai seizures. Suna gabatar a cikin nau'i na serial retropulsivnyh fasali clonic-tonic spasms da wata gabar jiki. A mafi yawan lokuta wannan ne har yanzu shiga infantile spasms flexor tsokoki. A rare lokuta, cutar na faruwa a cikin halarta a karon wata na fari na rayuwa. Farfadiya seizures ba cropped magani.

A cikin neurological matsayi na irin 'ya'yan, a rage daga kwanyar masu girma dabam, rage tsoka sautin, amma shi ne daya mai gefe reflexes disinhibition ko, conversely, paresis kuma inna. Bugu da kari, rabin na marasa lafiya da kwarangwal munanan: agenesis ko babu vertebral hakarkarinsa. Wannan take kaiwa zuwa tsanani scoliosis hali canje-canje.

bincikowa da

A halin yanzu, akwai wani abin dogara gwaje-gwaje da za su iya taimakawa wajen gano Aicardi ciwo. Prenatal kayyade lifiya a kan mataki ne ba zai yiwu, a matsayin gene alhakin ci gaban da wannan cuta da aka ba tukuna saukar.

Neurologist iya sanya wani binciken da cewa za su gane takamaiman bayyanar cututtuka. Wadannan sun hada da:

• dubawa.
• ophthalmoscopy.
• electroencephalography.
• Magnetic rawa Dabarar.
• X-haskoki na kashin baya.

Wannan ba ka damar gane da rashi na tarin rubuce-rubuce callosum da warwarewarsu ga fasali na cerebral hemispheres, gaban cysts.