The human body is a box of surprises. Every time you undergo a study or are the subject of researchón, either by origin or appearanceón the algaeún síntoma little común, returns attention-grabbing resultsón, as is the case of the apparitionóno of Síndrome de Klippel Error.
Index
¿Whaté is the síndrome de Klippel Error?
It is a rare disease of the system óseo cráneocervical disease presenting with the unión from the top of the spine and the cráneo, was discovered in theñO 1912 by French surgeons Maurice Klippel (his works más known están in the field of neurologyíand the psychiatristía) y André Error (measureólogo), from thereí your name.
He síndrome de Klippel Feil se caracterizaje por la fusión congégirl of two or moreás vértebras cervicales, in some cases lumbar and in others the entire spine.
In this artíass we will try to expose in a simple way to understand, the presence of SíKlippel Feil syndrome in some patients.
It is sísyndrome for being asymptomaticático, requires comprehensive evaluations, for each case. StadiumíStatically it occurs in one out of every 120 thousand babiesés. It is evident immediately afterés of birth, so its diagnóstico does not become difficultícil.
Types of síndrome de Klippel Error
He síKlippel Feil syndrome can be divided into three types, according to the fusióno of the vévertebrae:
- Type I.. His characterímain stica, it's the fuseómassive n of the vécervical vertebrae together with the vértebras torácicas.
- Type II. These are the fusions of one or two associated vertebral spaces, with other abnormalívertebral ace as hemivévertebrae (does not fully develop a vértebra).
- Type III. Hugón de vécervical vertebrae with thorácicas and lumbar.
The diagnosisóstic of the síndrome de Klippel Error
With the naked eye, little mobility of the spine and narrowing of the unilateral can be observed.ón cráneocervical (alterationón congénita of the occipital bone, the hole or the first two vévertebrae, that reduce the space available for the lower part of the trunk of the encéphallus u la médula cervical).
The suspicion clínica is confirmed using téimage study techniques: with magn resonanceénuclear test or tomographía helicoidal, that show the múmultiple fusions of the vécervical vertebrae and other alterations óbe present. It is also recommended to perform an ultrasoundía renal, audiometríand it workedóno thyroid, in order to rule out other abnormalíthe associates.
There are three ways básicas that represent the síndrome de Klippel Error:
- I melted itóno of the vécervical vertebrae in a single block
- The absence of at least 4 a 6 vértebras cervicales
- reductionón in the sizeñor of the vértebras cervicales, the vertebral arches and bodies without unión, with aparicsón of additional cervical ribs
Causes of theíndrome de Klippel Error
It is the product of a malformationón caused during pregnancyón, between the 3 and 8 weeks. Causes are unknown éare you withíndrome, but it has been associated with environmental factors and alterationón genética (inheritance).
La mutationón genética develops a pathologyíto from 5, 8 O 12 chromosomes, developing a disease in the mother's body in pregnancy.
Spaghettiécan be caused by exposureón to substances thatígirls who actúeven negatively on the development of the fetus in the úland. Así as unfavorable environmental conditions, medications or occupational hazards. Causing a lack of cervical space, and as a consequence the véspinal vertebrae remain attached.
The disease can be transmitted in an autoólittle dominant (disease of either parent that is transmitted to the heir) and recessive (both parents suffer from it and pass it on to their children), by mother and father.
He síndrome de Klippel Error se considera una alteracióprimitive neural tube initial n (estructura del embrión, from which the central nervous system originates). SpaghettiéThe theory has not been describedífor obstructionón vascular, one interruptedón at the level of the subclavian artery.
are associated abnormalías congéstrength músculo-esquelétics, of the brain, riñón y more and moreón. Spaghettién has been associated with this síurinary disorders syndrome, genitals, pulmonary, gastrointestinal, neurolócool, Central Nervous System, auditory, visuals and absence of vagina or ovaries.
Characterísticas of the síndrome de Klippel Error
The charactersícl sticasíunique malformations by the síndrome de Klippel Error, appear shortly afterés of birth. Not all patients have these characteristics.ísticas, some barely have síntomas:
- Short neck; the head seems to rest on the shoulders
- The face seems distorted
- Ears look lower
- Limited mobility of the head, especially in rotationón
- Hair growth below the normal level, grows on the neck
- Neck stiffness
There are numbness and tingling in the hands and feet, weakness in the múmuscles of the upper and lower extremities and lowers the temperature.
Treatment for the síndrome de Klippel Error
The treatment méI say with some analgésick, result úUseful only in mild cases. Surgical treatment should be performedúcorrective rgic, for those cases that have neurological compromiseógico.
He síKlippel Feil syndrome may vary depending on the characteristicsísticas of each patient. Within the conservative treatment, physiotherapy and massage are included to maintain normal muscle tone.
It is important to know that when this complication is discovered in timeón, discomfort can possibly be corrected, that can advance over time.
Less complicated to treat patients at an early age, since the systems óbone and muscle can adapt fáeasily to the changes that surgery may requireía. With the interventionón wantúrgica will be achievedá relieve the discomfort of this síndrome.
Unfortunately, the malformation cannot be removed.ónot in its entirety. The treatment isá indicated to prevent the development of various secondary deformations.
You should avoid the práctics of activities físic, so as not to cause major injuries.
Complications of the presence of the síKlippel Feil syndrome in the human body
The refusal of the parents, to submit to the childñor regular treatment, can develop nervous system complications. During the growth of the childñor the spine goes through degenerative processes and deformationónumber of intervertebral discs, that cause a deterioration in the raíspinal ces and contribute to the appearanceón severe pain in the neck and back.
If you detect a deficiency or bad formationón during pregnancyón, must carry out the necessary studies that can determine its origin. It is anomalousías podrístill be related to the appearanceón of síKlippel Feil syndrome in the human body.
