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Letters to the Editor Indian Pediatrics 1999;36: 1279-1280 |
Inienchephaly in a Live Born and Not Klippel Feil Syndrome |
| I read the case of Klippel Feil syndrome in the section Images in Clinical Practice(1) with interest. From the good quality photographs it is obvious that the case is of Iniencephaly and not Klippel Feil Syndrome. Iniencephaly is a type of neural tube defect. The criteria for diagnosis are: (i) imperfect formation of the base of the skull, mainly in the vicinity of the foramen magnum; (ii) rachischisis of varying degree; and (iii) retroflexion of the whole spine which forces the face of the fetus to look upwards and its head to pass directly on to the lumber region(2). The photographs of the case show hyperextended neck. Radiograph shows occipital bone defect and fused mass of the upper thoracic and cervical vertebrae. Klippel-Feil syndrome comprises of low posterior hair line, short neck, anteriorly directed face, fusion of cervical and sometimes of upper thoracic vertebrae. Iniencephaly is a common malformation in faimilies with neural tube defects (personal experience) and recurrence risk of 5% is suggested. Klippel Feil syndrome usually occurs sporadically; however, families with one child affected with an open neural tube defect and another with Klippel-Feil syndrome are known(3) and periconceptional folic acid supplementation as a risk reducing measure is recommended. For this reason and for similarity between Klippel-Feil and milder cases of Iniencephaly, a common developmental patho-logy for both is suggested. Children with Iniencephaly are almost always still born, but exceptionaly live born cases are reported. As compared to other neural tube defects, there appers to be less awareness about Iniencephaly amongst the medical practitioners and thus, this type neural tube defect commonly seen in stillborns is not appropriately diagnosed(4). This prevents the opportunity of offering periconceptional folic acid therapy to mothers. S.R. Phadke, 1. Suman RL, Savani M. Klippel Feil syndrome. Indian Pediatr 1999; 36: 832-833. 2. Aleksic SN, Budzilovich GN. Iniencephaly. In: Handbook of Clinical Neurology, vol 6. Eds. Vinken PJ, Bruyn GW, Klawans HL. Amsterdam, Elsevier Science Publishers, 1987; pp 129-135. 3. Tolmie J. Neural tube defects and other congenital malformations of the central nervous system. In: Emery and Rimoins. Principles and Practice of Medical Genetics, 3rd edn. Eds. Rimoins DL, Connor JM, Pyeritz RI. New York, Churchill Livingston, 1996; p 2152. 4. Halder A, Pahi J, Pradhan M, Pandey A, Gujral R, Agarwal SS. Iniencephaly: A report of 19 cases. Indian Pediatr 1998; 35: 891-896. Klippel Feil syndrome, originally reported by Klippel and Feil in 1912 is an extreme example of fusion of vertebral segments at the cephalic end of the spine. Since then, almost any form of cervical vertebral fusion has been labelled as Klippel Feil syndrome as if this morphology constituted a single entity. This condition is usually associated, understandably with shortness of neck and a low hair line(1). All these features, i.e., synostosis (cervical vertebral fusion), short neck and a low hairline are quite evident in our case. Moreover, anteriorly directed face is not a characteristic of Klippel Feil syndrome. In fact, due to the short, unsegmented cervical spine, the occiput may extend caudally to the level of the shoulder(1). Other reported associations are deafness, congenital heart defects (VSD being the commonest), mental deficiency, cleft palate, rib defects, the Sprengel sequence, scoliosis and renal abnormalities(2). Iniencephaly, on the other hand is characterized by deficiency of occiput in the region of foramen magnum, retorflexion of the spine and spina bifida (rachischisis)(3,4). As it is quite evident from the roentgenogram of the said baby, the occiput and base of skull are intact, with relatively no deficiency in our case. There was no evident rachischisis, although the possibility cannot be ruled out as CT/MRI was not done. Retroflexion of the neck is definitely present. Thus, our case doesn't satisfy all the cardinal features of Iniencephaly. However, the features of the two syndromes are overlapping. Hence we had stated that Klippel Feil syndrome must be differentiated from Iniencephaly and Sprengel deformity. Also, both Klippel Feil syndrome and Iniencephaly show a remarkable female preponderance. Klippel Feil sequence may also be a part of a serious problem in early neural tube develoment as in Iniencephaly, cervical meningomyelocele or syringomyelia. Primary or secondary neurologic deficits may occur, such as paraplegia, hemiplegia, cranial nerve palsies and synkinesia(2). References 1. Silverman FN, Kuha JP. Congenital malformations of the spine. In: Caffey's Pediatric X-Ray Diagnosis. An Integrated Imaging Approach. Philadelphia, Mosby Publication, 1993; p 128. 2. Jones KH. Klippel Feil sequence. In: Smith's Recognizable Pattern of Human Malformation, 4th edn. Philadelphia, W.B. Saunders Company, 1988; pp 558-559. 3. Halder A, Pahi J, Pradhan M, Pandey A, Gujral R, Agrawal SS. Iniencephaly: A report of 19 cases. Indian Pediatr 1998; 35: 891-896. 4. Stark AM. A report of two cases of Iniencephaly. J Obstet Gynaec Brit Emp 1951; 58: 462-464. R.L. Suman, |
