Cerebro-Facio-Thoracic Dysplasia: Report of Three Cases

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<ul><li><p>CASE REPORTS </p><p>ZUSAMMENFASSUNG Faciale Myokymie in Verbindung rriit Medulloblastom </p><p>Es wird iiber einen 5 Jahre alten Jungen berichtet, der einen communizierenden Hydro- cephalus hatte und bei dem eine einseitge faciale Myokymie schlieBlich zur Diapose fuhrte. Die mogliche Pathophysiologie der Myokymie und ihre Bedeutung als klinisches Symptom werden diskutiert. </p><p>RESUMEN </p><p>Mioquimia facinl asociada a riiedulobiastoma Se aporta un caso de meduloblastoma en un niiio de 5 aiios de edad que presentaba una </p><p>hidrocefalia comunicante. en la que la presencia de una mioquimia facial unilateral condujo finalmente a1 diagnostico. Se discute la posible patofisiologia de la niioquimia y su importancia como signo clinico. </p><p>REFERENCES De Silva, K. L., Pearce, J. (1972) 'Facial myokyniia: a clue to the diagnosis of multiple sclerosis.' Postgraduate </p><p>Gutniann, L., Thompson, H. G.. Martin, J. D. (1969) 'Transient facial myokymia. An uncommon mani- </p><p>Kaeser, H. E., Richter, H. R., Wuthrich, R. (1963) 'Les dyskinesies faciales.' Revue Nwrolugiqur, 108, 538. O'Connor, P. J., Parry, C. B., Davies, R. (1966) 'Continuous muscle spasm in intramedullary tumours of </p><p>Tenser, R. B., Corbett, J. J. (1974) 'Myokymia and facial contraction in brain stem glioma. An electro- </p><p>Medical Journal, 48, 657. </p><p>festation of multiple sclerosis.' Journal qf rltc. Aincrican Medical Association. 209, 389. </p><p>the neuraxis.' Journal o f Neurology, Neurosurgery arid Psychiafrj,, 29, 3 10. </p><p>myographic study.' Archives of Nerrrolo~~., 30. 425. </p><p>Cerebro-Facio-Thoracic Dysplasia: Report of Three Cases </p><p>I . Pascual-Castroviejo J . M . Santolaya V. Lovez Martin T . Rodriguez- Costa </p><p>Introduction There are many syndromes in which </p><p>mental retardation is associated with a characterist ic facial appearance, and others in which major or minor abnornial- ities of the spine occur together with facial deformities, which are often uni- lateral. Cases have been reported in whom mental retardation, characteristic facies and vertebral abnormalities have been found, as in 'Coffin's syndrome' (Coffin et al. 1966). </p><p>In this paper three patients are reported in whom there was significant mental retardation, a typical facial appearance and abnormalities of the vertebrae and ribs. </p><p>A . Tender0 F. Mulas </p><p>Case Reports CASE 1 </p><p>This girl, the eldest of three children, was referred to us at the age of 7j years on account of retarded motor and mental development. I n the family history both her father and mother (aged 27 and 23 years respectively at the time of the daughter's birth) were healthy, as were her two brothers. The parents were second cousins. Two of her mother's first cousins suffered from mental retardation of unknown origin. </p><p>The child had been delivered by the vertex at an estimated 42 weeks gestation. Birthweight was 3200g. She was cyanosed at birth but crying was initiated after back-slapping. The only abnormality noted on examination was a short neck. Her behaviour during the neonatal period was normal. </p><p>At the age of I0 months she had been referred </p><p>Clinica Infantil 'La Paz', Madrid 20, Spain. </p><p>343 </p></li><li><p>DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY. 1975, 17 </p><p>t o a paediatrician because she could not hold up her head in the erect position, She did not smile, seemed indifferent to her environment and made no effort to reach for objects. Her weight was 9100g (60th centile) and her height was 75cm (60th centile). The occipito-frontal circumference was 44cm (- 0.75 S.D.), the skull being brachy- cephalic with a flat occiput and a narrow forehead. The nasal bridge was wide, the ears low-set and the neck was short, with excessive skin over the nape. The scapulae were elevated and prominent and there was a dorso-lumbar kyphosis. There was convergent strabismus, predominant in the left eye. No definitive diagnosis was reached and she was sent to another paediatric centre where thyroid hormone was given, without apparent improvement. </p><p>She did not walk until the age of two years and when she was seen at the age of 2 years 1 1 months she walked with her feet very wide apart. At this time she weighed 158kg (75th percentile) and her height was 98cm (75th per- centile). She could say three or four words. It was noted that the inferior part of her chest was sunken. </p><p>A Gesell Test was administered and in spite of her lack of attention her development quotient was found to be: motor behaviour 21 months; adap- tive behaviour 13 months; language 18 months; personal-social I8 months. </p><p>At the age of 7% years she could feed herself but could not dress herself and was incontinent of urine and faeces. She was placid but showed little interest in toys or in playing with other children. Her speech was still limited to a few words. </p><p>On examination at age 7%. the following find- ings were noted. Occipito-frontal circumference 51.5cm (75th percentile), low hair-line, narrow forehead, anti-mongolian slant of the palpebral fissures, bushy eyebrows growing together, broad nasal bridge with a short nose, and a triangular mouth with a wide philtrum. The neck was short and showed bilateral skin folds. The nipples were low-set and the hair-line posteriorly was low (Figs. 1 and 2). Muscle tone was normal and tendon jerks were within normal limits. In walking, she dragged her widely-separated feet. There was bilateral convergent strabismus but the fundi were normal and there were no opacities in the cornea or lens. The results of the tests of thyroid function were normal. </p><p>Radiological studies showed that the cranium was brachycephalic and the occipital bone was flat. The sella turcica was small and the posterior clinoid processes were large. The inter-orbital distance was disproportionately large and there was overdevelopment of the frontal sinuses. Calcification of the falx cerebri was noted. There was hypoplasia of the superior maxilla, the mand- ible being prominent. X-rays of the chest showed multiple exostoses forming bridges between the posterior parts of the first five ribs on both sides. Some of these bridges extended a considerable distance towards the anterior parts, giving an appearance that the ribs were bifid. Other ribs were truly bifid, this being most obvious in the first rib on the right side. In the spine there was a moderate scoliosis, concave to the right, maximal in the D4-5 region. The cervical column showed multiple abnormalities, there being bony union down to the level of the 6th dorsal vertebrae. There were also hemi-vertebrae and wedged verte- brae in the cervical and superior part of the thoracic regions. The hips appeared to be normal. Bone age was normal. </p><p>The electroencephalogram showed no abnorm- ality. No abnormalities of the chromosomes were found. Derrnatoglyphic analysis showed distal displacement of the axial triradius and hypothenar whorls. </p><p>Fig. 1 (kfl). Case I . General aspect, showing facial alterations, short neck and widely-separated This girl was admitted to o u r clinic at the acre </p><p>CASE 2 I - </p><p>of five years on account of motor and intellectual retardation. In the family history, the childs mother. 28 years old at the time of her daughters </p><p>mammillae. Fig. 2 (right). Case 1. View of back and occipital region of head, showing thick neck, low hairline and elevated scapulae. </p><p>344 </p></li><li><p>CASE REPORTS </p><p>birth, was healthy. Her father, 32 years old, had synophrys (joining of the eyebrows in midline). She had two healthy brothers age 8 and I I years. The mother's first cousin was mentally retarded but was married and had two normal children. She was delivered by the vertex I S days after the expected date after an uncomplicated pregnancy. The labour was prolonged and she was apnoeic after birth, requiring slapping before crying started. Birthweight was 4160g. No abnormalities were noted at the time of birth and the neonatal course was uncomplicated. At the age of four months she suffered from bronchitis. </p><p>She did not hold up her head in the erect position until the age of IS months and walked without support only at 22 months. </p><p>When studied at the age of five years she could speak using only bisyllables and had no sentences. She was not reliably toilet-trained but could feed herself and tried to dress herself. She was of placid disposition and had good relationships with her brothers. She had had an operation for an in- guinal hernia. </p><p>Examination showed a child 119cni in height (90th percentile) with a n occipito-frontal c i rc tm- ference of 54cm and a weight of 20kg (75th per- centile). The skull was brachycephalic, the hair was abundant and coarse and the hair-line was low anteriorly and posteriorly (Figs. 3 and 4). As in Case I . the face was broad and the forehead narrow, with frontal bossing. The bushy eyebrous spanned the bridge of the nose. There was hyper- telorism. with epicanthic folds, and the nose u a \ </p><p>short and the nostrils anteverted. The mouth was triangular and the teeth were small, yellow and separated one from another. The ears had normal lobes but were low-set. The general impression was of a flat bcial profile. largely owing t o the lack of angle between the forshezid and the nose. The short neck showed limited lateral movement. The scapulae stood out a t the shoulders and were close together. The lower third of the sternum appeared to be indrawn. There was abundant hair o n the upper limbs and on thc back. N o defects were noted o n examination o f the alimentary. cardiovascular o r respiratory systems and the skull appeared to be normal. No defects of the eyes were noted. The child was generally slightly hypotonic, with normal tendon jerks, but volun- tary movements were slow and clumsy. She gave the impression of being nienrally retarded, though she was capable of co-operating in the examination. </p><p>Haematological findings were normal, the urine was normal on routine testing, and aminoacid chromatography findings were normal. N o ab- normalities were found in the cerebrospinal fluid and the blood calcium phosphorus and alkaline phosphatase were normal. Cholesterol was I300,'l and blood lipids 4.39g 1. The bone-marrow was within normal limits. </p><p>X-rays of the skull showed hypoplasia of the superior maxillary bones, uith a prominent mand- ible. The mandibular bones appeared to be rather square. The sella turcica was small and the inter- clinoid ligaments were calcified. There was broad- ening of the bones and hypercalcification of the </p><p>Fig. 3 (lefr). Case 2. Peculiar facies with bushy eyebrows, synophrys, short nose, wide philtrum, inverted-\/ mouth and narrow forehead. Fig. 4 (right). Case 2. Dorsal view of neck and trunk, jhowing low hairline. Scapulae are elevated and close together. </p><p>345 </p></li><li><p>DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY. 1975, 17 </p><p>skull bones in the posterior fossa. There was lack of development of the frontal sinuses (Fig. 5). X-rays of the chest showed the upper thorax to be narrow and there was some exostosis of the inferior surface of the posterior part of the right second rib. The posterior part of the right third rib was fork-shaped and reached the axilla; at the level of this fork there was an osseous bridge between the third and fourth right ribs. The direction of the posterior parts of the fourth, fifth and sixth ribs on the right was irregular. The third left rib appeared to be enlarged and the alignment of the anterior portion deviated from that of the related ribs. There was fusion of the posterior parts of the fourth, fifth, sixth and seventh ribs. The lower ribs were flared. 13 ribs were present on each side. In the spinal column, rudimentary thoracic ribs were found on the first dorsal vertebra, the one on the left being fused with the seventh cervical vertebra. The sixth and seventh cervical vertebrae appeared to be fused on the left and there was a block formation of the second, third, fourth, fifth and sixth thoracic vertebrae (Fig. 6). </p><p>Pneumoencephalography at eight months of age demonstrated a cavum velum interpositum; when repeated at five years of age, enlargement of the septum pellucidum was demonstrated. </p><p>Electroencephalography revealed an abnormal tracing in which there were bilateral bursts of spikes and slow waves. Analysis of the chromo- somes revealed no abnormality. The dermato- glyphic analysis showed thenar vestiges only. </p><p>On the Gesell Test, performed at 5 years 2 months, the developmental quotient was as follows: motor behaviour 42 months; adaptive behavior 30 months; language 18 months; per- </p><p>sonal-social 30 months. The intelligence quotient was 48. </p><p>CASE 3 This boy was the illegitimate son of the mother </p><p>and her second cousin. The mother had five earlier legitimate children (including one pair of twins). The child was brought to our centre at three years of age on account of motor retardation and microcephaly. He had been delivered by the vertex after an uncomplicated pregnancy, a t an estimated gestation of 40 weeks. He cried at birth and weighed 4kg. No abnormal- ities were noted at birth except that the head was rather large. The behaviour during the neonatal period was unremarkable and during the first months of life he appeared to be healthy. At the age of five months, however, he suffered from bronchitis and from that time onwards the parents noted a convergent squint. At five months he could not hold up his head. At 16 months he began to walk slowly, with frequent falls which seemed to occur more often as he grew older. He did not appear to be mentally retarded in com- parison with children of the same age. </p><p>At the age of 3 years 3 months he could feed himself but could not dress himself without help. He had just become continent of urine. He played with toys and seemed friendly, but his movements were sluggish. His speech seemed to be normal. There was no history of convulsions. He was unlike other members of his family. </p><p>On examination, his height was lO2cm (97th percentile) and his crown-rump length was 60cm (90th percentile). His occipito-frontal circumfer- ence was 54cm (97th percentile). His head appeared to be large and the face hypoplastic (Fig. 7). His </p><p>Fig. 5 (lefr). Case 2. Calcification of interclinoid ligaments, small anterior fossa, hypoplasia of maxilla, prominent mandibula with wide angle. Fig. 6 (right). Case 2. Alterations in ribs and vertebrae in superior half of thorax and inferior part of cervical column. </p><p>346 </p></li><li><p>CASE REPORTS </p><p>Fig. 7 ( I f + ) . Case 3 . General aspect of patient. bhowing peculiar facies and strabismus. Fig. 8 (righr). Case 3 . Profile, showing hypopla\ia of maxillary region and prominence of lower lip. </p><p>hair was bushy and there was a low hair-line, especially anteriorly and laterally. Some hair was present between the eyebrows. The forehead was narrow and his short nose showed no angle with the forehead and appeared on a lateral view to be in a straight line with it. The mouth uas triangular, with a broad philtruni and thick lips. The superior maxillae were hypoplastic and the cars were low-set (Fig. 8). The large t r u...</p></li></ul>