cerebro-facio-thoracic dysplasia: report of three cases

Click here to load reader

Download Cerebro-Facio-Thoracic Dysplasia: Report of Three Cases

Post on 02-Oct-2016




8 download

Embed Size (px)



    ZUSAMMENFASSUNG Faciale Myokymie in Verbindung rriit Medulloblastom

    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.


    Mioquimia facinl asociada a riiedulobiastoma Se aporta un caso de meduloblastoma en un niiio de 5 aiios de edad que presentaba una

    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.

    REFERENCES De Silva, K. L., Pearce, J. (1972) 'Facial myokyniia: a clue to the diagnosis of multiple sclerosis.' Postgraduate

    Gutniann, L., Thompson, H. G.. Martin, J. D. (1969) 'Transient facial myokymia. An uncommon mani-

    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

    Tenser, R. B., Corbett, J. J. (1974) 'Myokymia and facial contraction in brain stem glioma. An electro-

    Medical Journal, 48, 657.

    festation of multiple sclerosis.' Journal qf rltc. Aincrican Medical Association. 209, 389.

    the neuraxis.' Journal o f Neurology, Neurosurgery arid Psychiafrj,, 29, 3 10.

    myographic study.' Archives of Nerrrolo~~., 30. 425.

    Cerebro-Facio-Thoracic Dysplasia: Report of Three Cases

    I . Pascual-Castroviejo J . M . Santolaya V. Lovez Martin T . Rodriguez- Costa

    Introduction There are many syndromes in which

    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).

    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.

    A . Tender0 F. Mulas

    Case Reports CASE 1

    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.

    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.

    At the age of I0 months she had been referred

    Clinica Infantil 'La Paz', Madrid 20, Spain.



    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.

    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.

    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.

    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.

    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.

    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.

    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.

    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

    CASE 2 I -

    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

    mammillae. Fig. 2 (right). Case 1. View of back and occipital region of head, showing thick neck, low hairline and elevated scapulae.



    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.

    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.

    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.

    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 \

    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 re