Endolymphatic sac obliteration for large vestibular aqueduct syndrome

The objective of this study was to investigate the effects of endolymphatic sac obliteration for stabilization of progressive hearing loss in patients with the large vestibular aqueduct syndrome. This was a retrospective case review conducted at a private neurootologic office in a metropolitan area. Seven ears in six patients were subjected to surgery for obliteration of the endolymphatic sac in an effort to stabilize progressive hearing loss associated with the large vestibular aqueduct syndrome. The study population was composed of four boys and two girls 4-17 years of age. The large vestibular aqueduct was unilateral in two patients and bilateral in four patients. All seven ears demonstrated progressive sensorineural hearing loss preoperatively. Surgical tissue obliteration was performed via a transmastoid approach in seven ears. The main outcome measure was comparison of pre- and postoperative hearing levels and stability. Magnetic resonance imaging also was performed in all cases at least 6 months postoperatively to determine patency of the endolymphatic sac and vestibular aqueduct. Six of seven ears maintained stable hearing during the follow-up period, which ranged from 6 months to 6 years (mean 3.2 years). One patient showed continued progression of hearing loss postoperatively. All seven ears demonstrated continued obliteration on postoperative imaging studies. Surgical obliteration of the endolymphatic sac may stabilize hearing in patients with the large vestibular aqueduct syndrome and progressive hearing loss. These results support the theory of pressure or fluid reflux into the labyrinth as a cause of progressive hearing loss in these patients.     

Large vestibular aqueduct syndrome with high CT density and high MR signal intensity

We report a case of large vestibular aqueduct syndrome with a markedly dilated endolymphatic sac bilaterally. The density and signal intensity of the extraosseous portion of the sac were higher than those of cerebrospinal fluid on CT and MR studies. The findings may represent protein-rich and hyperosmolar fluid within the endolymphatic sac.     

Familial occurrence of unilateral vestibular schwannoma

Vestibular schwannoma (VS) may present clinically in one of two forms: sporadic unilateral or hereditary bilateral. Almost all cases of familial transmission have been associated with the diagnosis of neurofibromatosis type II (NF-2). In this report, we describe nine families (18 individuals) presenting with unilateral VS without evidence of NF-2. In four of the nine families, the affected individuals were of parent-offspring relationship, in three families they were cousin-cousin, and in the remaining two families, they were sibling-sibling and aunt-nephew. No other members of the families were diagnosed with NF-2. There was no evidence for gender predilection or genomic imprinting among affected individuals. This study suggests that familial occurrence of unilateral VS may be genetically inherited as it occurs more commonly than would be estimated by chance alone. Future genetic studies will elucidate whether occurrence of unilateral VS in these families represents a variable expression of NF-2, chance occurrence of unilateral VS in families, or a new genetic disorder.     

The variational anatomy of the external aperture of the human vestibular aqueduct

A study was undertaken to demonstrate the variational anatomy of the external aperture of the vestibular aqueduct in 90 human temporal bones obtained from 58 cadavers. Topographic landmarks of the posterior surface of the petrous bone are useful for general orientation and include the external aperture of the vestibular aqueduct, internal auditory meatus, sigmoid sinus, subarcuate fossa, superior petrosal sinus and cochlear canaliculus. We determined the mean distances from the external aperture of vestibular aqueduct to the above structures to be 10.98, 11.21, 9.42, 10.27 and 13.90 mm, respectively. Furthermore, the length of the external aperture of the vestibular aqueduct revealed significant differences between the right and left sides. The distances between the EAVA and certain anatomical structures on the posterior surface of the temporal bone should be taken into consideration during surgery. Knowing the variability of the position of the external aperture of the vestibular aqueduct may help surgeons avoid traumatizing, and thus producing inadvertent lesions to the hearing mechanism.     

Familial myeloproliferative syndrome

Familial chronic myeloproliferative syndrome (CMS) was observed in five members from two different generations of the same kindred. Diagnosis included agnogenic myeloid metaplasia (case 1), polycythemia vera (case 2), and essential thrombocythemia (cases 3-5). Cases 1-3 were siblings, case 5 was the daughter of case 1, and case 4 was the cousin of cases 1, 3. Age at diagnosis ranged from 28 to 75 years, cases 1 and 3 were male, and the others were female. The diagnosis was made after an episode of cerebral thrombosis in one patient, during a study for headache and dizziness in another, and fortuitously in the three remainders. All patients had splenomegaly and varying degrees of thrombocytosis. The cytogenetic exam was normal in all four cases. A woman patient was treated with interferon during a pregnancy. Fetal growth was retarded, and the newborn showed bone and genital malformations. No environmental leukemogen factor was found. This familial case strengthens Dameshek's theory of a common pathogenesis of CMS and suggests a genetic and hereditary etiology.     

Familial Felty's syndrome

A family is described in which the mother and 2 of the 5 children had Felty's syndrome, a pattern of inheritance suggesting a dominant defect and one which has not previously been reported. The family is also of interest in that the other sib had rheumatoid arthritis.     

Three familial cases of hearing loss associated with enlargement of the vestibular aqueduct

The present report describes three familial cases of recessive hearing loss associated with enlargement of the vestibular aqueduct (EVA). Six siblings from three families showed EVA. The common characteristic of these patients was the presence of congenital, high-frequency, fluctuating sensorineural hearing loss. These cases suggest that EVA may be a useful discriminator between different types of recessive hearing loss.     

Adult hemolytic-uremic syndrome. Familial variant

We describe here a family with hemolytic-uremic syndrome culminating in renal failure and severe hypertension in the involved male adults. Members of this family developed a microangiopathic hemolytic anemia, progressive renal failure, the onset of elevation of blood pressure, and an untimely death in young adulthood. One affected family member has survived the initial crisis. The family history presents further evidence for an autosomal dominant pattern of inheritance of hemolytic-uremic syndrome with presentation in adulthood.     

Familial CRST syndrome with sicca complex

As a result of critical review of information on lipid composition of foods, representative values have been derived for the lipid and fatty acid contents of lamb and veal. Comprehensive tabulations of fatty acids in 100-gm. portions of raw and cooked retail cuts are given. The mean fatty acid profiles of the lean and adipose tissues which were used for computing the fatty acid values in the food tables are presented. The lean tissue lipid of lamb contains a significant amount of caprylic, arachidic, and arachidonic acids which are not present in the adipose tissue. A comparison of beef and veal shows that veal lipid is a richer source of polyunsaturated fatty acids. The new values presented here for fatty acids in lamb and veal should provide nutritionists and dietitians better means for evaluating diets.     

Prediction of facial nerve displacement in extra large vestibular schwannoma

The primary objective in the surgery of extra large vestibular schwannoma is the total removal of the tumour mass while preserving the facial nerve. Preservation of the facial nerve in extra large tumours is reported as being notoriously difficult in the majority of cases. This study was undertaken to evaluate the accuracy in predicting displacement of the facial nerve by preoperative radiological imaging studies in 19 cases of extra large vestibular schwannoma. The direction of displacement of the facial nerve was predicted with preoperative axial and coronal MRI scans and verified intraoperatively. We achieved total removal of tumours in 84.2%, facial nerve displacement was predicted in 80% and we accomplished anatomical preservation in 80%. Prediction of displacement was difficult in tumours with little or no intracanalicular components or with severe bony destruction of the internal acoustic meatus. The preoperative prediction of facial nerve displacement in extra large tumours allows safe internal decompression of the tumour and careful dissection near the predicted area of the facial nerve during the operation. Consequently, a high rate of anatomical preservation of the facial nerve can be achieved.     

Familial temporal lobe epilepsy: a clinically heterogeneous syndrome

We describe the clinical characteristics of a group of patients with familial temporal lobe epilepsy (TLE) in 11 kindreds with 36 affected individuals identified and investigated at the Montreal Neurological Hospital. Seizure types were simple partial (n = 20), complex partial (n = 29), and rare generalized tonic-clonic. Simple and complex partial seizures were infrequent or well controlled by anticonvulsant medication in 17 of 29 patients (59%) and without optimal response to medical therapy in 12 of 29 patients (41%). Pedigree analysis suggested autosomal dominant inheritance with incomplete penetrance. The syndrome of familial TLE has heterogeneous clinical manifestations and is not always benign.     

Familial Romano-Ward syndrome. Apropos of 2 new observations

BACKGROUND: Congenital long QT syndrome is rare, usually revealed by bouts of syncopal attacks secondary to effort or strong emotions, and more rarely by atypical epileptic crisis. CASE REPORTS: We report a family history of two boys whose mother and grandmother both died suddenly a few days after delivery. The oldest child was 10 years old when admitted to hospital for recurrent loss of consciousness. Neurological examination and biological assays were normal; electrocardiography (ECG) revealed a prolonged QT interval of 0.59 seconds and episodes of torsades de pointe on the 24 hour ECG recording. The inefficacy of beta blocker treatment alone led to the implantation of a pacemaker; no recurrence has occurred since. The family investigation permitted to recognize the same syndrome in his asymptomatic 8-year-old brother for whom a prophylactic treatment was started. CONCLUSION: Both cases remind us of the necessity to carry out systematically an ECG in every child seen for unexplained malaise related or not to stress or for an atypical epileptic crisis. This is the only way for an early diagnosis on which the entire prognosis depends.     

Familial ureteral abnormalities syndrome: genomic mapping, clinical findings

Macrophage inflammatory protein-1 alpha (MIP-1alpha) has been shown to have a role in the control of myeloid stem and progenitor cell proliferation. Recent evidence suggests that MIP-1alpha also has a stimulatory effect on proliferation of mature progenitors as well as an inhibitory effect on immature progenitors in vitro. We have compared the effect of MIP-1alpha on myeloid and erythroid colony formation of CD34+ cells isolated from bone marrow and cord blood. In the presence of MIP-1alpha, bone marrow granulocyte-macrophage-colony forming cells (GM-CFC) were inhibited over a dose range of 15 ng/ml to 500 ng/ml, and GM-CFC from cord blood CD34+ cells were stimulated over the same dose range. MIP-1alpha suppressed BFU-E colonies in both bone marrow and cord blood. Using thymidine suicide assays, the influence of MIP-1alpha on the cycling status of the cells was assessed. A good correlation between the effect of MIP-1alpha on colony formation and cell cycle progression was observed. These results suggest that there is a differential response to MIP-1alpha when bone marrow and cord blood CD34+ cells are compared. Using flow cytometry and a biotinylated human MIP-1alpha/avidin fluorescein conjugate, the expression of MIP-1alpha receptors on CD34+ cells was assessed. The data indicated that there was little quantitative difference in overall expression of receptors (82.9% versus 93%) from bone marrow or cord blood, respectively. However, when Northern blot analysis was used, mRNA for two different MIP-1alpha receptors CCR1 and CCR5 could be detected in bone marrow, but only CCR1 mRNA was seen in cord blood CD34+ samples. Therefore, the expression of different receptor subtypes on CD34+ cells may be responsible for the difference in MIP-1alpha responsiveness observed.     

Familial cryptogenic fibrosing pleuritis with Fanconi's syndrome (renal tubular acidosis). A new syndrome

We describe two siblings with a progressive unrelenting and unique syndrome of bilateral fibrosing pleuritis of unknown cause occurring in association with Fanconi's syndrome (renal tubular acidosis). The parents of the siblings were second cousins. Both siblings had identical pleural histologic characteristics and identical urinary metabolic defects. This condition resulted in the development of severe respiratory failure in both patients and ultimately the death of the older sibling at the age of 21 years.     

Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome

We report on the occurrence of coronal craniosynostosis, anal anomalies, and porokeratosis in two male sibs. A third male sib was phenotypically normal as were the parents. The occurrence of these three clinical features has, to our knowledge, not been reported before. Cutaneous or anal anomalies or both have been reported in a number of syndromes associated with craniosynostosis, including Crouzon, Pfeiffer, Apert, and Beare-Stevenson syndromes. These syndromes are associated with mutations in the fibroblast growth factor receptor genes FGFR1, FGFR2, and FGFR3. They are inherited in an autosomal dominant fashion. In contrast, the cases we report do not carry any of the common FGFR mutations and the pedigree suggests autosomal or X linked recessive inheritance.     

Familial nephrotic syndrome with focal glomerular sclerosis (author's transl)

This is a report about three siblings (one boy and two girls) suffering from a clinically- and morphologically-identical form of renal disease. The disease began in each case with symptomless proteinuria at the age of 3 years and proceeded after several years to the full-blown picture of idiopathic nephrotic syndrome with the rapid development of renal insufficiency. Histologically, minimal proliferative intercapillary glomerulonephritis with focal sclerosis was found in all 3 cases. This condition was resistant to steroid and immunosuppressive therapy. The incidence and the morphological, clinical and therapeutic peculiarities and the prognosis of familial nephrotic syndrome are discussed on the basis of these case reports.