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A 19-year-old girl with carpal and tarsal osteolysis has been presented. The clinical course was characterized by normal early growth and motor development followed by the insidious onset in early childhood of a progressive, peripheral joint destruction, especially in the tarsal and carpal bones. The patient's course was complicated by acquired spasticity from platybasia, scoliosis, generalized muscle weakness, mild growth failure and corneal clouding.
INTRODUCTION: Schwartz Jampel syndrome is a usually recessive disorder that presents myotonia, skeletal (bone dysplasia) and facial (blepharophimosis) anomalies and low height, which is diagnosed in childhood. We report on the clinical, electromyographical and radiological findings of two siblings affected by the disease and who were diagnosed late, in adulthood. CASE REPORTS: Two siblings, a male aged 39 and a female of 49, the only members of a family of five siblings born to consanguineous parents to be affected, were studied because of deformities in the joints that appeared at the age of nine months and alterations in their gait. Both had a syndromic facies with hypertelorism, micrognathia, blepharospasm, thin mouth, saddle nose and low height. The sister presented lumbar hyperlordosis, dislocation of the kneecaps, clubfeet, fists with radial deviation, bilateral dislocation of the head of the radius and limited pronosupination and flexure tension of the elbow. Deep reflexes were diminished. The male had deformities in both knees and in the right elbow, and was unable to perform pronosupination of the arm or bend the knee. A coxofemoral X ray revealed an epiphysial dysplasia. The magnetoencephalogram showed continuous muscular activity with complex repetitive discharges in the sister s orbicularis oculi and biceps. The brother had a bilateral entrapment of the ulnar nerve in the ulnar canal with a secondary axonal compromise. Magnetic resonance imaging of the encephalon of the patient showed cortical atrophy, hyperintense focal areas in the periventricular white matter and platybasia. CONCLUSIONS: In the adult, myotonic chondrodystrophia evolves with decreased blepharospasm, the presence of structured deformities and entrapments of peripheral nerves.
To study a relationship between the skull base and cervical spine anomalies and Chiari type I malformation (CMI), 364 patients with CMI were examined using craniography and magnetic resonance imaging of the brain and spinal cord. To reveal bone anomalies and CMI, morphometric data analysis was performed. The control group consisted of 120 patients without central nervous system pathology, cranial and cervical spine anomalies. The data obtained allowed dividing the skull base and cervical spine anomalies identified in the CMI patients into 3 groups: 1) primary anomalies (basilar invagination, platybasia, atlantal assimilation) predisposing to CMI development; frequent occurrence and reliable interrelation between these anomalies and CMI severity were found that confirmed the results reported in the literature on their key role in a small size of posterior cranial fossa; 2) combined with CMI bone anomalies, which do not influence CMI development (Klippel--Feil and Kimmerle anomalies); 3) secondary skull base and cervical spine deformations formed as a result of CMI impact (foramen magnum and cervical canal enlargement).
A case of solitary syringobulbia without syringomyelia diagnosed by MRI was reported. A 63-year-old female, who had a history of progressive gait disturbance for 9 months, was admitted to our department because of severe headache. Neurological examination revealed that the patient was suffering from right pyramidal sign as well as left deep sensory disturbance without apparent impairment of cranial nerves or nystagmus. The somatosensory evoked potential stimulated by the left median nerve showed delay in latency and low amplitude, however, the auditory brainstem response showed normal records bilaterally. A syringobulbia associated with platybasia, basilar impression, obstructive hydrocephalus and Arnold-Chiari malformation was diagnosed by the neuroradiological examinations including plain X-ray films of the skull, CT scan and MRI of the brain. Subsequent to the decompression around the cisterna magna by suboccipital craniectomy and laminectomy of the atlas, the opening of the Foramen Monro which was obstructed by a thick membrane was carried out, and prevention of communication between the fourth ventricle and the syrinx was accomplished by using a piece of muscle. This operative procedure was thought to be compatible with Gardner's operation for syringomyelia. The patient showed gradual improvement of gait disturbance as well as headache 3 months after surgery, and this neurological improvement was proved by decrease in the size of the known syringobulbia on MRI, and by normalized somatosensory evoked potential stimulated by the median nerve. Pathophysiology of the solitary syringobulbia with relatively acute onset of the neurological symptoms was assumed to have taken place in the following manner.(ABSTRACT TRUNCATED AT 250 WORDS)
A rare case of syringomyelia associated with Arnold-Chiari malformation, primary IgA deficiency and sex chromosomal abnormality is reported. A 26-year-old Ethiopian black male was admitted with a complaint of hypalagesia of his left arm and face for 10 years. Neurological examination on admission revealed dissociated sensory loss of his left arm and face. Mild motor weakness of his hand and rotatory nystagmus on left gaze were also noticed. Plain craniogram of lateral view showed small posterior cranial fossa with low positioned inion and platybasia. MRI with T1-weighted images in sagittal plane revealed tonsillar herniation reaching C1 and syrinx extending from C2 to lumbar region. Although no episode of infectious disease nor allergy were experienced, blood analysis disclosed low serum level of IgA (7 mg/dl). The values of other immunoglobulins were within normal range. IgA in saliva was not detected, too. According to the clinical history and symptoms, a diagnosis is of primary asymptomatic IgA deficiency was obtained. Karyotype analysis showed inversion of Y chromosome. In an attempt to avoid anaphylactic shock on blood transfusion in a patient with IgA deficiency, autologous blood was prepared before surgery. Decompressive craniectomy of the posterior fossa with posterior arch of C1 and C2 was performed together with syringosubarachnoid shunt at Th 6-7 level. Postoperative course was successful and slight improvement of sensory disturbance was obtained. No respiratory or wound infection was occurred. The association of these three anomalies is very rare and genetical relationship is not known. From surgical point of view, it is conceivable that preoperative management in a case of asymptomatic IgA deficiency is uneventful.
One family of 17 cases of general fibrosis syndrome was reported. Four out of five patients examined with CT and/or MRI revealed cavum vergae or cyst of the cavum septi pellucidi or mega cisterna magna, which were characterized by existing on the midline of the brain. The patient with cavum vergae had also platybasia. In one patient, surgical correction of vertical deviation and blepharoptosis of both eyes was performed. There was abnormal insertion of the superior and inferior rectus muscles in posterior and nasal direction, and adhesion of the superior oblique muscle to the superior rectus muscle at the point of it's insertion was found in both eyes. Histopathological findings of the extraocular muscles of two patients showed mixture of relatively normal muscle tissues and vast amounts of collagen fibers. Electron microscopically many glycogen granules were found in muscle fibers. From these findings, this syndrome may be based on failure in development and differentiation.
We would like to present a case of Klippel-Feil Syndrome in which it is associated with multiple cervical vertebra synostosis, short neck, cervical rib, congenital sclerosis, platybasia, spina-bifida and deafness. We are revising the case history of this syndrome.
We report a rare case of acute respiratory failure in a previously asymptomatic patient showing clinical signs of inferior cranial nerve palsy together with weakness and muscular atrophy of the upper limbs. Magnetic resonance imaging revealed Arnold-Chiari malformation associated with platybasia, basilar impression, syringomyelia and Klippel-Feil syndrome. Episodes of apnoea required tracheostomy and recurred upon tentative closure of the tracheostome, but remitted upon decompression of the posterior fossa. This case involved both obstructive mechanisms and dysfunction of the respiratory centre. Patients with respiratory failure not explained by pulmonary pathology should be checked for underlying neurological disease.
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