Indian J, Pedlar.42: 112, 1975
CONGENITAL
LESIONS Report
OF THE
CRANIOSPINAL
AXIS ~
of Four Cases
G. CHANGAL RAJU, G. SUVARNAKUMARI, DR. I. DINAKAR, AND D. BHASKARA REDDV Kurnool
Midline craniospinal anomalies include a variety of congenital malformations such as dermoids, dermal sinuses, lipomas and meningomyelooeles. Basically these represent various expressions of defective closure of the neurel tvbe together with associated involvement of mesodermal and ectodermal elements. Some of these conditions are rare and present interesting clinical features, diagnostic problems and technical difficulties in their surgical correction. T h e following case reports illustrate some of these corgenital abnormalities. Diastematomyelia is a rare developmental anomaly in which the spinal cord is split into two lateral halves by a band of either osseous, fibrous or fibro-cartilagenous tissue. T h e literature reveals association of this lesion with various other abnormalities, cutaneous, skeletal and neurological (Benstead 1953, I n g r a h a m and Matson 1954, Ferret 1958, Seaman and Schwartz 1958, Rao and Dinakar 1970). Diastematomyelia is usually encountered in children, though a few eases have been reported in adults (Seaman and Schwartz 1958, English and Maltby 1967). This condition is more common in the female sex and most o f the cases described were below the age of 14 years. M y e l o g r a p h y is often *From the Departments of Pathology and Neurosurgery, Kurnool Medical Collegej Kurnool, 518002. A.P. Received on December 3, 1974.
diagnostic in which the opaque medium is split into two columns by the septum. Surgical excision of the septum is the standard procedure of treatment. Dermal sinuses are the result of defective closure of the neural groove with inclusion of the epithelial elements in the developing spinal cord or its coverings. T h e epithelial tracts m a y extend to various depths and may expand to form dermoid cysts intraspinally or they m a y be associated with other dysraphic manifestations (Rao and Dinakar 1971). T h e common site is the lumbo-sacral region. Less commonly they occur along the higher levels o f the spine. Those which affect the cranium are usually situated in the midline in the occipital region or in the nasofrontal area.
CASE 1. ~lultiple Anomalies--Diastematomyelia, Dermal 6inuses and Dermoid Cyst. Baby T., a 3-month-old female child, first born to non-consanguinous parents, had a swelling over the occipital region and another over the mid-dorsal region. T h e swellings had been getting bigger gradually. T h e r e was dribbling of urine. On examination there was a cystic swelling over the external occipital protuberance (Figure 1) measuring 3 era. in diameter with a sinus over its summit. It was not reducible, pulsatile or transilluminant. T h e r e was a diffuse swelling over the lower dorsal region in the midline. T h e skin showed bluish discolouration, hypertricho-
RAJU ET A L , ~ C O N O E N I T A L LESIONS OF THE CRANIOSPINAL AXIS
sis and a sinus in the centre from which hair was protruding. There was a dimple on the lower cervical region from which there was a yellowish b r o w n discharge (Figure l). T h e child had spastic weakness of both lower limbs and incontinence of urine. O t h e r systems were normal. Plain X-rays of the spine revealed widening of the lower cervical and lower dorsal spines. There were hemivertebrae at D7 and D8 and scoliosis. There was an oval defect of bone at the inion, A l u m b a r myelogram using 3 ml. of Myodil (R) and screening showed a filling defect in the centre of tile dye column at the level of the hemiverteblae and also at the lower cervical region (Figure 2). W h e n the dye was traced UlSwards it flowed a r o u n d the defect in the occipital bone but none entered the swelling. U n d e r general anaesthesia, the occipital swelling was exposed through a transverse incision. T h e sinus was traced to a cyst which contained hair and pultaceous material. I t was excised. T h e cervical sinus was traced t h r o u g h the bifid spine intradurally ending in a fibrocartilagenous spur which was excised. T h e sinus over the dorsal region was similarly dissected and was found to be entering the dura. On opening the dura a cartilagenous spur was found projecting backwards (diastematomyelia) and it was excised. The child did not thrive well after surgery, developed infection in the cervical wound and died on the seventh post-operative day. The dermoid cyst and dermal sinuses were confirmed histologically. T h e spur showed a cartilagenous structure.
GdS& 2. Frontal Dermoid Cyst with a Dermal Sinus, A one-year old boy was admitted with a swelling over the forehead of 2 m o n t h s ' duration. He was
113
healthy prior to its onset. The swelling was rapidly increasing in size and a few days before admission involved the left eyelid also. There was no fever. O n examination he was an active child. There was a diffuse swelling above the root of the nose which was cystic, not reducible. T h e left eye-lid was swollen and there was a small opening with purulent discharge from it. T h e r e was a small sinus over the middle of the nose on the dorsal aspect. On further questioning the mother admitted having noticed it from the time of birth without causing any obvious trouble. T h e pus yielded coagulase negative staphylococci. X-rays of the skull showed a soft tissue shadow over the frontal region. T h e outer table of the frontal bone and outer wall o f the frontal sinus were missing and the inner table showed irregular erosions. There was deficiency of bone at the junction of the frontal and nasal bones. U n d e r general anaesthesia t h r o u g h a bifrontal scalp flap the infected dermoid cyst was excised. The anterior table of the frontal bone was deficient and there was infected granulation tissue over the eroded posterior table. T h e lower end of the cyst c o m m u n i c a t e d through a small hole at the lower end of the wound near the root of the nose. The wound healed well. T h r o u g h a vertical incision encircling the sinus on the dorsum of the nose, the sinus was traced upwards into the frontal region where the main mass was excised previously. T h e sinus contained cheesy material and hair. T h e wound was closed and the child was discharged after a smooth recovery. The child is leading a normal life to date. Haematoxylin and eosin stained sections revealed keratin and hair follicles and a
114
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INDIAN JOURNAL OF PEDIATRICS
wall lining the keratinised epithelium (Figure 3).
squamous
CASE 3. Frontonasal Encephalocoele. Encephalocoele occurs more commonly in the posterior midline o f the occipital bone. V e r y rarely it m a y be seen at the root of the nose (Rao 1969) the orbit, over the eye brows or roof of the p h a r y n x . In a study of 36 cases ofencephalocoeles, O d e k u (1967) could find only 6 cases of frontonasal encephalocoeles. T h e size of the swelling is closely reloted to the degree o f osseou s defect. L . K . , a 4-month-old female child was a d m i t t e d with a swelling over the root of the nos~ which was present from birth and increasing in size. O n e x a m i n a t i o n there was a diffuse swelling over the root of the nose. T h e r e was hypertelorism. The swelling was smooth, soft and neither reducible nor transilluminant. T h e r e was no t r a n s m i t t e d pulsation. X - r a y s of the skull showed splaying of the nasal bones with a circular defect in the centre and soft tissue shadow overlying the defect. U n d e r general anaesthesia a bifrontal scalp flap was reflected and a bifrontal osteoplastic flap was raised. Dissection revealed a cystic swelling projecting from the frontal d u r a t h r o u g h a defect in the fronto-ethmoidal junction, forwards into the root of the nose. I t was excised. T h e dural defect was repaired. T h e nasal bones were found to be irregular and splayed a p a r t . T h e wound was closed. At the time of discharge the wound had healed well but the deformity o f the nose i.e. wide root, r e m a i n e d . Histology revealed a fibrous tissue wail, with brain m a t t e r inside, consistent with meningoencephalocoele.
CASE 4. Lumbosacarl Teratoma. Sacral teratomas are c o m m o n l y found in infancy and early childhood and occur p r e d o m i n a n t l y in girls. They are usually benign and m a y be solid or cystic. They seldom have a c o m m u n i c a t i o n with the spinal canal ( R a n d and R a n d 1970). It is difficult to differentiate sacral teratomas from the m o r e c o m m o n meningomyelocoles. A 4-month-old m a l e b a b y was born with a swelling over the l u m b o s a c r a l region which h a d been slowly increasing in size. On e x a m i n a t i o n the child was in poor general health, the lower limbs were weak and flaccid. T h e r e was incontinence o f urine and the anal sphincter was lax. There was a cystic swelling over the midline at the l u m b o s a c r a l junction, 3"• 2" • 2" in size. It was not transilluminant. T h e r e was no o t h e r congenital defect. A clinical diagnosis of l u m b a r meningomyelocoele was m a d e . U n d e r general anaesthesia the sac was opened by means of a vertically elliptical incision. T h e r e was a small a m o u n t of fluid in the sac and on evacuating it a tense cyst was found in the centre which contained mucoid m a t e r i a l . After excising the same, a small defect was found in the neural arch. A cartilagenous mass of 1 cm. d i a m e t e r was found by the side of the neural defect which could be easily separated and r e m o v e d . No cerebrospinal fluid leaked from the spinal canal indicating that there was no c o m m u n i c a t i o n with the dural sac. T h e wound was closed. Islands of cartilage and brain m a t t e r with cystic spaces lined by endothelial cells were seen consistent with a t e r a t o m a . We thank the Superintendent, Government General Hospital, Kurnool, for permission to use the ease records, Sri P. Harieharanapati for photographs and I. Gowrishankar for secretarial assistance.
INDIAN JOURNAL OF PEDIATRICS
PLATE
1
Fig. 1. Dermoid cyst on the occiput, cervical sinus and a sinus in the dorsal region (Case l).
Fig. 2. Myelogram showing a defect in the myodil column (arrow) indicating diastema. tomyelia (Case 1).
Fig. 3.
Histological structure of dermoid cyst (Case 2). H&Ex80.
RAJU ET AL.~CONGENITAL LESIONS OF THE CRANIOSPINAL AXIS.
RAJu ET AL.~CONGENITAL LESIONS OP THE CRANIOSPINAL AXIS References
Benste~d,J.G. (1953), A case of diastematomyelia. ~7. Path. & Bact. 66, 5 ~3. English, W.J. and Mahby, G.L. (1967). Diastematomyelia in adults, ft..Neurosurg. 27, 260. Ferret, G (1957). Diagnosis and surgical treatment ot diastematomyelia. Surg, Gynec. Obstet. 105, 69. Ingraham, F.D. and Matson, D.D. (1954). Neurosurgery in Infancy and Childhood. Springfield, llI. Cha,les C Thomas. p. 57, Odeku, E.L. (19671. Congenital malformations of the cerebrospinal axis seen in Western Nigeria.
115
Internat. Surg. 48, 52. Rand, R,W. and Rand, C.W. (1970), Intraspinal tumours of childhood. Springfield, Charles C. Thomas. Rao, B.D. (1969). Skeletal defects in the floor of the anterior cranial fossa (A rationale for surgical management). .Neurology (India), 17, 1. Rao, S.B. and Dinakar, I. (1970). Diastematomyella. Indian ft. Radiol. 24, 28. Rao, S.B. and Dinakar, I (1971). Spinal dysraphysm. Indian ft. Surg. 33, 430. Seaman, W.M.B. and Schwartz, H.G. (1958). Diastematomyelia in adults. Radiology, 70, 692.
CONGENITAL
LESIONS Report
OF THE
CRANIOSPINAL
AXIS ~
of Four Cases
G. CHANGAL RAJU, G. SUVARNAKUMARI, DR. I. DINAKAR, AND D. BHASKARA REDDV Kurnool
Midline craniospinal anomalies include a variety of congenital malformations such as dermoids, dermal sinuses, lipomas and meningomyelooeles. Basically these represent various expressions of defective closure of the neurel tvbe together with associated involvement of mesodermal and ectodermal elements. Some of these conditions are rare and present interesting clinical features, diagnostic problems and technical difficulties in their surgical correction. T h e following case reports illustrate some of these corgenital abnormalities. Diastematomyelia is a rare developmental anomaly in which the spinal cord is split into two lateral halves by a band of either osseous, fibrous or fibro-cartilagenous tissue. T h e literature reveals association of this lesion with various other abnormalities, cutaneous, skeletal and neurological (Benstead 1953, I n g r a h a m and Matson 1954, Ferret 1958, Seaman and Schwartz 1958, Rao and Dinakar 1970). Diastematomyelia is usually encountered in children, though a few eases have been reported in adults (Seaman and Schwartz 1958, English and Maltby 1967). This condition is more common in the female sex and most o f the cases described were below the age of 14 years. M y e l o g r a p h y is often *From the Departments of Pathology and Neurosurgery, Kurnool Medical Collegej Kurnool, 518002. A.P. Received on December 3, 1974.
diagnostic in which the opaque medium is split into two columns by the septum. Surgical excision of the septum is the standard procedure of treatment. Dermal sinuses are the result of defective closure of the neural groove with inclusion of the epithelial elements in the developing spinal cord or its coverings. T h e epithelial tracts m a y extend to various depths and may expand to form dermoid cysts intraspinally or they m a y be associated with other dysraphic manifestations (Rao and Dinakar 1971). T h e common site is the lumbo-sacral region. Less commonly they occur along the higher levels o f the spine. Those which affect the cranium are usually situated in the midline in the occipital region or in the nasofrontal area.
CASE 1. ~lultiple Anomalies--Diastematomyelia, Dermal 6inuses and Dermoid Cyst. Baby T., a 3-month-old female child, first born to non-consanguinous parents, had a swelling over the occipital region and another over the mid-dorsal region. T h e swellings had been getting bigger gradually. T h e r e was dribbling of urine. On examination there was a cystic swelling over the external occipital protuberance (Figure 1) measuring 3 era. in diameter with a sinus over its summit. It was not reducible, pulsatile or transilluminant. T h e r e was a diffuse swelling over the lower dorsal region in the midline. T h e skin showed bluish discolouration, hypertricho-
RAJU ET A L , ~ C O N O E N I T A L LESIONS OF THE CRANIOSPINAL AXIS
sis and a sinus in the centre from which hair was protruding. There was a dimple on the lower cervical region from which there was a yellowish b r o w n discharge (Figure l). T h e child had spastic weakness of both lower limbs and incontinence of urine. O t h e r systems were normal. Plain X-rays of the spine revealed widening of the lower cervical and lower dorsal spines. There were hemivertebrae at D7 and D8 and scoliosis. There was an oval defect of bone at the inion, A l u m b a r myelogram using 3 ml. of Myodil (R) and screening showed a filling defect in the centre of tile dye column at the level of the hemiverteblae and also at the lower cervical region (Figure 2). W h e n the dye was traced UlSwards it flowed a r o u n d the defect in the occipital bone but none entered the swelling. U n d e r general anaesthesia, the occipital swelling was exposed through a transverse incision. T h e sinus was traced to a cyst which contained hair and pultaceous material. I t was excised. T h e cervical sinus was traced t h r o u g h the bifid spine intradurally ending in a fibrocartilagenous spur which was excised. T h e sinus over the dorsal region was similarly dissected and was found to be entering the dura. On opening the dura a cartilagenous spur was found projecting backwards (diastematomyelia) and it was excised. The child did not thrive well after surgery, developed infection in the cervical wound and died on the seventh post-operative day. The dermoid cyst and dermal sinuses were confirmed histologically. T h e spur showed a cartilagenous structure.
GdS& 2. Frontal Dermoid Cyst with a Dermal Sinus, A one-year old boy was admitted with a swelling over the forehead of 2 m o n t h s ' duration. He was
113
healthy prior to its onset. The swelling was rapidly increasing in size and a few days before admission involved the left eyelid also. There was no fever. O n examination he was an active child. There was a diffuse swelling above the root of the nose which was cystic, not reducible. T h e left eye-lid was swollen and there was a small opening with purulent discharge from it. T h e r e was a small sinus over the middle of the nose on the dorsal aspect. On further questioning the mother admitted having noticed it from the time of birth without causing any obvious trouble. T h e pus yielded coagulase negative staphylococci. X-rays of the skull showed a soft tissue shadow over the frontal region. T h e outer table of the frontal bone and outer wall o f the frontal sinus were missing and the inner table showed irregular erosions. There was deficiency of bone at the junction of the frontal and nasal bones. U n d e r general anaesthesia t h r o u g h a bifrontal scalp flap the infected dermoid cyst was excised. The anterior table of the frontal bone was deficient and there was infected granulation tissue over the eroded posterior table. T h e lower end of the cyst c o m m u n i c a t e d through a small hole at the lower end of the wound near the root of the nose. The wound healed well. T h r o u g h a vertical incision encircling the sinus on the dorsum of the nose, the sinus was traced upwards into the frontal region where the main mass was excised previously. T h e sinus contained cheesy material and hair. T h e wound was closed and the child was discharged after a smooth recovery. The child is leading a normal life to date. Haematoxylin and eosin stained sections revealed keratin and hair follicles and a
114
VOL. 42, No. 327
INDIAN JOURNAL OF PEDIATRICS
wall lining the keratinised epithelium (Figure 3).
squamous
CASE 3. Frontonasal Encephalocoele. Encephalocoele occurs more commonly in the posterior midline o f the occipital bone. V e r y rarely it m a y be seen at the root of the nose (Rao 1969) the orbit, over the eye brows or roof of the p h a r y n x . In a study of 36 cases ofencephalocoeles, O d e k u (1967) could find only 6 cases of frontonasal encephalocoeles. T h e size of the swelling is closely reloted to the degree o f osseou s defect. L . K . , a 4-month-old female child was a d m i t t e d with a swelling over the root of the nos~ which was present from birth and increasing in size. O n e x a m i n a t i o n there was a diffuse swelling over the root of the nose. T h e r e was hypertelorism. The swelling was smooth, soft and neither reducible nor transilluminant. T h e r e was no t r a n s m i t t e d pulsation. X - r a y s of the skull showed splaying of the nasal bones with a circular defect in the centre and soft tissue shadow overlying the defect. U n d e r general anaesthesia a bifrontal scalp flap was reflected and a bifrontal osteoplastic flap was raised. Dissection revealed a cystic swelling projecting from the frontal d u r a t h r o u g h a defect in the fronto-ethmoidal junction, forwards into the root of the nose. I t was excised. T h e dural defect was repaired. T h e nasal bones were found to be irregular and splayed a p a r t . T h e wound was closed. At the time of discharge the wound had healed well but the deformity o f the nose i.e. wide root, r e m a i n e d . Histology revealed a fibrous tissue wail, with brain m a t t e r inside, consistent with meningoencephalocoele.
CASE 4. Lumbosacarl Teratoma. Sacral teratomas are c o m m o n l y found in infancy and early childhood and occur p r e d o m i n a n t l y in girls. They are usually benign and m a y be solid or cystic. They seldom have a c o m m u n i c a t i o n with the spinal canal ( R a n d and R a n d 1970). It is difficult to differentiate sacral teratomas from the m o r e c o m m o n meningomyelocoles. A 4-month-old m a l e b a b y was born with a swelling over the l u m b o s a c r a l region which h a d been slowly increasing in size. On e x a m i n a t i o n the child was in poor general health, the lower limbs were weak and flaccid. T h e r e was incontinence o f urine and the anal sphincter was lax. There was a cystic swelling over the midline at the l u m b o s a c r a l junction, 3"• 2" • 2" in size. It was not transilluminant. T h e r e was no o t h e r congenital defect. A clinical diagnosis of l u m b a r meningomyelocoele was m a d e . U n d e r general anaesthesia the sac was opened by means of a vertically elliptical incision. T h e r e was a small a m o u n t of fluid in the sac and on evacuating it a tense cyst was found in the centre which contained mucoid m a t e r i a l . After excising the same, a small defect was found in the neural arch. A cartilagenous mass of 1 cm. d i a m e t e r was found by the side of the neural defect which could be easily separated and r e m o v e d . No cerebrospinal fluid leaked from the spinal canal indicating that there was no c o m m u n i c a t i o n with the dural sac. T h e wound was closed. Islands of cartilage and brain m a t t e r with cystic spaces lined by endothelial cells were seen consistent with a t e r a t o m a . We thank the Superintendent, Government General Hospital, Kurnool, for permission to use the ease records, Sri P. Harieharanapati for photographs and I. Gowrishankar for secretarial assistance.
INDIAN JOURNAL OF PEDIATRICS
PLATE
1
Fig. 1. Dermoid cyst on the occiput, cervical sinus and a sinus in the dorsal region (Case l).
Fig. 2. Myelogram showing a defect in the myodil column (arrow) indicating diastema. tomyelia (Case 1).
Fig. 3.
Histological structure of dermoid cyst (Case 2). H&Ex80.
RAJU ET AL.~CONGENITAL LESIONS OF THE CRANIOSPINAL AXIS.
RAJu ET AL.~CONGENITAL LESIONS OP THE CRANIOSPINAL AXIS References
Benste~d,J.G. (1953), A case of diastematomyelia. ~7. Path. & Bact. 66, 5 ~3. English, W.J. and Mahby, G.L. (1967). Diastematomyelia in adults, ft..Neurosurg. 27, 260. Ferret, G (1957). Diagnosis and surgical treatment ot diastematomyelia. Surg, Gynec. Obstet. 105, 69. Ingraham, F.D. and Matson, D.D. (1954). Neurosurgery in Infancy and Childhood. Springfield, llI. Cha,les C Thomas. p. 57, Odeku, E.L. (19671. Congenital malformations of the cerebrospinal axis seen in Western Nigeria.
115
Internat. Surg. 48, 52. Rand, R,W. and Rand, C.W. (1970), Intraspinal tumours of childhood. Springfield, Charles C. Thomas. Rao, B.D. (1969). Skeletal defects in the floor of the anterior cranial fossa (A rationale for surgical management). .Neurology (India), 17, 1. Rao, S.B. and Dinakar, I. (1970). Diastematomyella. Indian ft. Radiol. 24, 28. Rao, S.B. and Dinakar, I (1971). Spinal dysraphysm. Indian ft. Surg. 33, 430. Seaman, W.M.B. and Schwartz, H.G. (1958). Diastematomyelia in adults. Radiology, 70, 692.
