Osteopathia striata with cranial sclerosis
Descrição do Produto
OSTEOPATHIA
STRIATA WITH CRANIAL SCLEROSIS
Report of a case and review of the literature J. De Keyser*,
M. Bruyland*,
J. De Greve**, J. Leemans***,
R. Potvliege***,
R.
Six** and G. Ebinger*.
SUMMARY This article describes a case of osteopathia striata with cranial sclerosis. The patient also has multiple sclerosis. The symptomatology includes a right sided conduction deafness and a left maxillar nerve deficit, which were both attributed to the bone disorder. The authors review the literature of this rare genetic syndrome and pay special attention to the neurological manifestations. These mainly consist of hearing loss, mental subnormality and occasionally the involvement of other cranial nerves. The bone scan in their patient shows hyperactivity in the left skull base region. This finding provides further evidence that. at least in some instances, the bone disorder has a progressive course.
INTRODUCTION
Osteopathia striata is a rare roentgenographic entity, first reported by VOORHOEVE (1924). The name was proposed by FAIRBANK (1935) who described a similar case (FAIRBANK, 1925). The condition is characterized by the presence of dense linear striations in the long bones and pelvis. Occurring as an isolated feature, the condition is of no clinical significance and its radiographic picture is usually found by chance. Osteopathia striata has been associated with focal dermal hypoplasia (LARREGUE et al., 1972) and recently one family has been reported with an associated hyperpigmented macular dermatosis and white forelock (WHYTE and MURPHY, 1980). HURT (1953) described the first case associated with cranial sclerosis, and since then only fifteen other well documented cases with this association have been published (Table 1). Osteopathia striata with cranial sclerosis has typically clinical and radiographic features, which make this entity clearly different from the other bone dysplasias with cranial sclerosis.
CASE REPORT
A 48-year-old woman presented with complaints of gait difficulties, a numb feeling in the first two fingers on the left, and a ptosis of the left eye, noted some months * Department of Neurology * * Department of Internal Medicine * * * Department of Radiology Akademisch Ziekenhuis, Vrqe Universiteit
Brussel, Brussels, Belgium.
Clin. Neural. Neurosurg. 1983. Vol. 85-l (Accepted 19.1.83) ISSN 0303-8467
42 ago. There was a history of polydactyly with a sixth digit on the left foot which was removed at the age of 20, chronic sinusitis, hypertension and a hysterectomy for myoma. Her mother died at the age of 63 from leukemia. Here father and three sisters are normal. She has two children, a boy aged 16 who is normal and a girl aged 13 with a history of impaired hearing since childhood, which has been attributed to a narrowing of the external auditory canals. There was no family history of cleft palate, mental retardation or polydactyly. On examination the patient appeared to have a large head with prominent forehead,and a broad face with flattened nasal bridge and wideset eyes. Neurological examination revealed incomplete ptosis of the left eye, a left sided internuclear ophthalmoplegia and a left abducens paresis. the pupils were equal and reactive. There was sensory loss for pinprick, temperature and light touch in the territory of the left maxillar nerve. The cornea1 reflexes were elicited symmetrically and there was no facial weakness. The tuning fork tests revealed a right sided conduction deafness. The lower cranial nerves showed no abnormalities. The left arm and right leg were mildly paretic. Sensory examination revealed hypesthesia on the palmar side of the first two left fingers. The tendon reflexes were exaggerated with the exception of the left radial- and bicepsreflex. The superficial reflexes could not be elicited. The plantar response was flexor on the left and extensor on the right. The mental status was normal. An electroencephalogram and electromyographic examination of the left arm were normal. Eye fundi and visual field examination were normal. Otoscopic examination showed no abnormalities. Audiometric tests confirmed a right sided conductive hearing loss of 60-80 dB. The stapediusreflex was absent on the right. Cervical myelography was normal. Brain stem auditory evoked responses and
Fig. 1. Sclerosis of the skullespecially of the cranial vault.
of the base, and thickening
Fig. 2. A-P radiograph
of the skull.
43 Fig. 3. LongitudinaI striations in the distal end of the left femur.
pattern-shift visual evoked responses, agar gel electrophoresis and isoelectric focusing of the cerebrospinal fluid proteins, were compatible with the diagnosis of multiple sclerosis. X-rays of the skull showed thickening of the calvarium and osteosclerosis, especially of the base (Fig. 1 and 2). Computed tomographic (CT) scanning of the brain, tomographic examination and CT scanning of the orbits, only showed a dense and thickened bone. CT scanning of the petrous pyramids showed in addition of the sclerotic bone, diminished pneumatisation of the mastoids but a normal appearance of the middle ear ossicles and inner ear. A roentgenoIogica1 survey of the rest of the skeleton revealed longtitudinal striations in ah the long bones (Fig. 3) and fanlike striation in the pelvis. Spine and pelvis also showed mild sclerosis. In addition, a spina bifida S, and an exostosis on the proximal phalanx of the left fifth toe and the left fourth metatarsal, were present. Bone scanning with 99m Tc-methylenediphosphonate demonstrated areas of increased uptake in the left skull base region (Fig. 4). needle-aspiration biopsy of the right iliac crest
Fig. 4. Bone scans showing areas of hyperactivity in the left skull base region.
44 revealed
increased
increased
thickness
calcium-phosphorus xyproline in urine,
hardness
of the bone,
of the bone
trabeculae.
and
histological
Laboratory
examination
investigations,
metabolism, alkaline phosphatase activity, calcitonin, and haematologic values, were strictly normal.
showed especially hydro-
On a skull radiograph, obtained three years earlier for chronic sinusitis, the same osteoclerosis was present. Radiographs of the daughter, complaining of deafness, showed striation in the long bones and sclerosis of the skull. She also had a large head and a face similar to that of her mother. Radiographs of the son were normal. Further roentgenological family study was refused.
DISCUSSION
Osteopathia
striata with cranial sclerosis has been recognised from prenatally 1980) till the fifth decade (HURT, 1953). Radiographically, the condition is characterized by thickening of the cranial vault and sclerosis of the skull, especially of the base and of some facial b n The sinuses can be obscured and pneumatisation of the mastoids can be diminished. In the long bones and pelvis, the typical striation of osteopathia striata is found. Increased density inconstantly also involves pelvis, ribs and vertebrae. The radiographic aspect of the skull may remain unchanged (BLOOR, 1954; DE BOER and VAN GOOL, 1974) or may show increasing density (TAYBI and MUROCK, 1969; WINTER et al., 1980). The clinical manifestations include a typical craniofacial appearance, consisting of a large head and a broad somewhat square face with nasal bridging and wide-set eyes. There is a high occurence of palatal deformity, which can be cleft or high arched. Nasal obstruction in infancy may cause feeding difficulties and failure to thrive (BLOOR, 1954; CULVER and THUMASATHIT, 1972; FRANKLYN and WILKINSON, 1977; PALING~~U~., 1981). (WINTER
et al.,
Dental anomalies, vertebral deformities, including scoliosis and spina bitida occulta, sternal and rib cage malformations, and other more rare findings, summarized in Table 1, have been reported. Polydactyly, as found in our patient, has never been described previously. Neurological manifestations are present in the majority
of patients.
The most common
is hearing
loss, occurring
uni- or bilaterally,
mostly of the conductive type (HORAN and BEIGHTON, 1978; JONES and MULCAHY, 1968; PALING et al., 1981; WINTER et al., 1980) but it can also be of the perceptive (BLOOR, 1954; SEVAUX, and GALMICHE, 1970)ormixedtype (HORAN and BEIGHTON, 1978; JONES and MULCAHY, 1968; SEVAUX and GALMICHE, 1970). It can result from narrowing of the external auditory canal, impaired mobility of the middle ear ossicles, damage to the inner ear or auditory nerve entrapment. In our case, the hearing loss seemed to be due to an impaired mobility of the middle ear structures. The hearing loss progressed slowly in some cases (BLOOR, 1954; JONES and MULCAHY, 1968; SEVAUX and GALMICHE,~!?~O;WALKER, 1969). Mentalsubnormalityisa second common feature. Other cranial nerves may occasionally be affected. One case presented with a congenital bilateral facial palsy (FRANKLYN and WILKINSON,
45 1977) and the case of WALKER( 1969) showed narrowed optic foramina what did rise the possibility of optic nerve compression, but this patient also suffered from cataracts. Our case is the first described with a maxillar nerve deficit. The hypesthesia involved pinprick, temperature as well as light touch, and was strictly confined to the territory of the second division of the left trigeminal nerve. In the case of a brain stem lesion one would normally expect a dissociation of the sensory loss and a different segmental localisation. Therefore, this hypesthesia can not be attributed to a plaque in the brain stem, and in our opinion results from entrapment of the left maxillar nerve at the skull base. The presence on bone scanning of hyperactivity in that region also favors this statement. Only two patients complained of headache (HORAN and BEICHTON, 1978; SEVAUX and GALMICHE, 1970) and one case has been reported with weakness and underdevelopment of musculature (TAYBI and MUROCK, 1969). The association with multiple sclerosis, as found in our patient, is more than probable coincidental. Bone scanning has not previously been reported, except for the isolated form of osteopathia striata, where it was completely normal (CARLSON, 1977; WHYTE et al., 1978). As mentioned above, there have been cases in which the osteosclerosis of the skull increased with time, and others in which the hearing loss was progressive. The increased uptake on bone scanning, in our patient, provides further evidence for the progressive character of the bone disorder, although there were no visible changes on comparing the previously taken skull X-rays. Laboratory investigations, especially calcium-phosphorus concentrations, alkaline and acid phosphatase levels, and haematologic values are usually normal (SEVAUX and GALMICHE, 1970; WALKER, 1969; WINTER et al., 1980). The alkaline phosphatase was elevated in two cases, but the first had a bronchial carcinoma (BLOOR, 1954) and the second was a growing child (PALING et al.,1981). Although many cases occurred sporadically, two recent family studies demonstrate autosomal dominant inheritance (HORAN and BEIGHTON, 1978; WINTER eta/., 1980). Our family seems to confirm this finding. However, the phenotypic expression is sexdetermined. Only the females have the typical craniofacial appearance and are affected by hearing loss or other cranial nerve involvement, while in both sexes mental subnormatity and palatal deformities are found. A surgical attempt to correct the deafness was unsuccesfull (JONES and MULCAHY, 1968), but a hearing aid could provide relief in some cases. An important finding is, that at least in some instances, the bone disorder has a progressive course. This could lead to the development of therapeutic measures in order to stabilize the disorder and so to prevent further damage of ear structures and cranial nerves.
ACKNOWLEDGEMENTS
We wish to express our thanks to Dr. A. Bossuyt for performing the bone scan and to Dr. M. Marichal for the histological examination.
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