Cases reported "Achondroplasia"

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1/23. achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment.

    The association between sudden death and cervicomedullary compression in infants with achondroplasia has been well described. Prospective clinical and imaging evaluations have been recommended to identify those infants with achondroplasia who are at risk of dying suddenly from respiratory arrest secondary to unrecognized cervicomedullary compression. Since 1988, we have prospectively evaluated 11 infants (average age 13 weeks) with achondroplasia who were asymptomatic for cervicomedullary compression on initial clinical evaluation. Craniocervical magnetic resonance imaging (MRI) findings included narrowing of the foramen magnum, effacement of the subarachnoid spaces at the cervicomedullary junction, abnormal intrinsic cord signal intensity and mild to moderate ventriculomegaly. Two patients with severe cord compression underwent immediate decompression. Two patients developed opisthotonic posturing within 3 months of evaluation and underwent foramen magnum decompression, including suboccipital craniectomy and atlantal laminectomy. Surgery in all cases revealed forward extension of the squamous portion of the occipital bone, thickened posterior rim of the foramen magnum and a dense fibrotic epidural band. There were no complications from surgery. Seven patients did not require surgery and were followed closely. All 11 patients remain asymptomatic at follow-up (mean 4.6 years; range 16 months to 7.3 years), and no patient has required a diversionary shunt procedure. The results of this prospective study confirm that early clinical and MRI evaluations are necessary to determine whether infants with achondroplasia have cervicomedullary compression. With early recognition, an immediate decompression can be performed safely to avoid serious complications associated with cervicomedullary compression, including sudden death. copyright copyright 1999 S. Karger AG, Basel
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2/23. Pseudoachondroplasia with cerebral and renal cysts.

    Pseudoachondroplasia (PSACH) is a spondylo-epi-metaphyseal dysplasia characterised by disproportionate short stature, generalised ligamentous laxity and precocious osteoarthritis. Autosomal dominant inheritance has been demonstrated in many families. The present case was normal at birth. By 3 years of age his height has fallen below the 5th percentile. At 6 1/2 years of age he was 99 cm tall (-3.5 SD), and he had bowing of the lower extremities and some limitations of movements at the elbows and knees. Radiographs showed features of PSACH. Kypho-scoliosis appeared later on with anterior beaking of the vertebrae. Cerebral CT scan showed a very large frontal cyst communicating with the IIIrd ventricle. RMI confirmed the frontal cyst and showed dilatation of the IIIrd ventricle and of the occipital horns of the lateral ventricles, and a right frontal parietal hemispheric atrophy. At 26 years of age he complained of pain in the knees, swallowing difficulties, and vertigo. Renal ultrasonographic examination showed a large cortical cyst of the right kidney and smaller cysts in both kidney.
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keywords = ventricle, cerebral
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3/23. Crossed aphasia with left spatial neglect and visual imperception: a case report.

    A 64-year-old right-handed woman with no left-handers in the family developed aphasia associated with moderate left hemiparesis and dense left homonymous hemianopia following rupture of a right middle cerebral artery aneurysm and subsequent selective surgery confined to the right hemisphere. Severe left spatial neglect and constructional apraxia were also present. The patient was an achondroplasic dwarf whose previous medical and neurological history was otherwise unremarkable. Computed tomography of the brain showed a large right temporo-insulofrontoparietal lesion. language and nonverbal cognitive functions were assessed after 2 and 6 months, and then four years later. A reportedly overall language disruption in the acute period evolved into Wernicke's aphasia and then into a mild form of conduction aphasia. The associated left spatial neglect eventually shrank to a minimum. The patient never had clinically detectable visual agnosia, but on specific tests of visual recognition and perception some impairment was found four years after onset. The left hemiparesis disappeared in time while the left hemianopia persisted. This case is a convincing example of an entirely righthanded person in whom both linguistic and visuospatial functions are represented in the right hemisphere.
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keywords = cerebral
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4/23. airway management of an achondroplastic dwarf with hydrocephalus undergoing decompression surgery.

    The neurological problem of achondroplasia is hydrocephalus which may arise from stenosis of the foramen magnum secondary to occipital hypertrophy. The spine is also affected by abnormalities in the cervical region (odontoid hypoplasia and occipitalization of C1), which can compound the problem of cord compression. We report a rare instance of achondroplasia in a 3-month-old female infant with the risk of spinal cord compression during the manipulation of endotracheal intubation. For fear of that the surgeon inclined awake intubation in order that spinal cord intactness could be confirmed by neurological test on the spot after intubation. Awake oral endotracheal intubation was performed although with some difficulty, yet the motor function at the first cervical spinal level was unmolested as revealed by neurological test after intubation.
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5/23. The role of endoscopic third ventriculostomy in the treatment of triventricular hydrocephalus seen in children with achondroplasia.

    The authors of this paper describe two patients with achondroplasia in whom triventricular hydrocephalus has been successfully treated using endoscopic third ventriculostomy (ETV). The authors performed ETVs in two children with achondroplasia involving a moderate macrocranium and enlarged lateral and third ventricles with intermittent clinical evidence of increased intracranial pressure. The endoscopic procedure revealed a significant deformation of the floor of the third ventricle in both patients caused by longstanding hydrocephalus. Because of the anatomical variations such as empty sella and the persistence of the infundibular recess, the ETV procedure became technically demanding. The standard ventriculostomy on the tuber cinereum was not possible. Ventriculostomies were performed on the part of the third ventricular floor that was hanging ventral to the pons. Both patients became symptom free postoperatively, and phase-contrast cine magnetic resonance (MR) imaging studies confirmed the patency and effectivity of the ventriculostomy sites. The authors suggest that ETVs may constitute an alternative for ventriculoperitoneal shunt therapy as the treatment of choice for patients with achondroplasia who have triventricular hydrocephalus and clinical symptoms. attention should be paid to the shape of the floor of the third ventricle, however, especially in cases of longstanding hydrocephalus. An association of the empty sella or the persistence of the infundibular recess must be carefully evaluated using MR imaging studies before attempting ETVs in such patients.
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keywords = ventricle
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6/23. Arachnoid cyst resulting in tonsillar herniation and syringomyelia in a patient with achondroplasia. Case report.

    achondroplasia has been associated with varying degrees of cervicomedullary and spinal compression, although usually in the pediatric population. Large arachnoid cysts have also been found to result in tonsillar herniation and syringomyelia. The authors present the case of a patient with achondroplasia who presented with symptoms of foramen magnum compression and syringomyelia, and who was subsequently found to have a large posterior fossa arachnoid cyst. This 38-year-old woman with achondroplasia presented with an 8-month history of headache and numbness of the hands and fingers. Admission magnetic resonance (MR) imaging of the head and spine revealed a large arachnoid cyst in the posterior cranial fossa, a 6-mm tonsillar herniation consistent with an acquired Chiari malformation, and a large cervicothoracic syrinx. The patient was treated using suboccipital craniectomy, C-1 laminectomy, fenestration of the arachnoid cyst, and decompression of the acquired Chiari malformation with duraplasty. Surgical decompression resulted in improvement of the presenting symptoms, adequate decompression of crowding at the foramen magnum, and resolution of the syrinx. Although there was only partial reduction in the retrocerebellar cisternal space on follow-up MR imaging, no residual symptoms were related to this.
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7/23. Irreversible respiratory failure in an achondroplastic child: the importance of an early cervicomedullary decompression, and a review of the literature.

    The authors report the case of a girl with achondroplasia suffering from a progressively worsening hypotonic quadriparesis. CT scan showed slight dilatation of ventricular and subarachnoid spaces, with well-defined evidence of cortical sulci and gyri. This aspect was compatible with the diagnosis of macrocrania and megalencephaly (CP being 51 cm). The foramen magnum was narrowed, the transverse diameter measuring 15 mm and the 50th percentile being, for age, 26 mm. Somatosensory evoked potentials (SEPs) revealed bilaterally prolonged interpeak latencies Erb-N13, slowing of central conduction time N13-N20 from right median nerve stimulation, and block from left median nerve. The suspicion of cervicomedullary compression was confirmed by MRI, showing a very marked stenosis with compression exerted by the odontoid process. Further, a stenotic cervical canal and optic nerves verticalization were manifest. The patient underwent neurosurgical decompression by suboccipital craniectomy and cervical-C1 laminectomy. In spite of treatment, both neurologic and respiratory problems (rapid, shallow and almost abdominal breathing) were unchanged. The girl died 4 1/2 months later. The authors emphasize the important role of SEPs in detection of cervicomedullary compression in achondroplastic children and also stress the necessity of an early surgical treatment as the only condition for possible clinical improvement and/or full recovery.
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8/23. hydrocephalus in an achondroplastic child treated by venous decompression at the jugular foramen. Case report.

    A 10-month-old child with achondroplasia with progressive head enlargement, ventriculomegaly, and wide subarachnoid spaces over the hemispheres was referred for evaluation. A steady-state lumbar infusion test revealed increased cerebrospinal fluid (CSF) outflow resistance (14 mm Hg/ml/min), and intra-arterial digital subtraction angiography (DSA) demonstrated bilateral venous outflow obstruction due to stenosis of the jugular foramen. Surgical decompression by opening the right jugular foramen relieved the clinical signs of intracranial hypertension. During the following year, the patient's head enlargement was moderate with relative normalization of size. Repeat DSA demonstrated improved venous runoff on the right side, and a steady-state lumbar infusion test demonstrated reduced CSF outflow resistance (10 mm Hg/ml/min). Venous decompression is causal therapy and may prove to be preferable to shunting in children with hydrocephalus and bilateral stenosis of the jugular foramen.
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9/23. hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension.

    The significance and cause of ventriculomegaly in achondroplasia was investigated in five achondroplastic children. The intraventricular pressure (IVP) was monitored over 24 hours, followed by intraventricular injection of radionuclide alone or in combination with water-soluble contrast material. The IVP was elevated and the reabsorption of cerebrospinal fluid (CSF) into the sagittal sinus was slow in all cases, but there was no obstruction to CSF flow. The spinal subarachnoid space was well seen in all patients. Jugular venograms with pressure monitoring were obtained in four patients (bilaterally in one). These studies confirmed a narrow jugular foramen in all patients with a significant venous pressure gradient (3 to 10 mm Hg) obtained while the catheter was being pulled back from the sigmoid sinus through the foramen. A second gradient was found in the jugular vein in two patients at the level of the upper thoracic aperture. This gradient was 6 and 14 mm Hg, respectively. Identical venograms and monitoring of the venous pressure in a control group showed no pressure gradients across the jugular foramen and smaller gradients (2 to 5 mm Hg) across the thoracic inlet. It is concluded from these studies that ventriculomegaly in achondroplastic children represents hydrocephalus, which is likely secondary to raised intracranial venous pressure due to hemodynamically significant stenosis of the jugular foramen and, in some cases, the jugular vein in the thoracic aperture.
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10/23. Developmental abnormalities of the occipital bone in human chondrodystrophies (achondroplasia and thanatophoric dwarfism).

    Specific developmental malformations have been demonstrated in the occipital bone of two chondrodysplastic disorders (achondroplasia and thanatophoric dwarfism). Analysis of these malformations indicates that the occipital bone is primary affected in these disorders. In both cases, the endochondral-derived components of the occipital bone (the basioccipital, the two lateral parts, and the planum nuchale of the squama occipitalis) have failed to grow properly and are smaller and shorter than normal. On the other hand, the planum occipitalis of the squama, which derives from intramembranous ossification, is unaffected. In addition, the nature of these abnormalities indicates that the occipital synchondroses, together with the epiphyseal plates of other bones, are primarily affected in these two chondrodysplasias. The components of the occipital bone formed between the affected synchondroses failed to grow normally. The resulting malformation of the occipital bone is undoubtedly the cause of the shortening of the posterior cerebral fossa and of the considerable narrowing of the foramen magnum often described in these chondrodysplasias. It is postulated that growth disturbances between the affected occipital bone and the unaffected central nervous system results in the inadequacy of the posterior cerebral fossa and the foramen magnum to accommodate the growing brain. Consequently, compression of the brain at the posterior cerebral fossa or the foramen magnum levels could occur and thus lead to neurologic complications such as hydrocephalus and compression of the brain stem. It is suggested that the surgical removal of the fused posterior border of the lateral parts of the occipital bone (partial nuchalectomy) for the purpose of enlarging the narrow foramen magnum may be indicated in those chondrodysplastic children who develop these types of neurologic complications.
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keywords = foramen, cerebral
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