Gangliosidosis 1 in brother and sister: case report

GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder characterized by the generalized accumulation of GM1 ganglioside. Deficiency of the lysosomal hydrolase, acid beta-galactosidase, causes GM1 gangliosidosis and Morquio disease type B. 1, 2 Three clinical subtypes of GM1 gangliosidosis are recognized, classified by age of onset, [Infantile [type 1], juvenile [type 2] and adult [type 3][3, 4, 5]. We describe here 2 sibs brother and sister with features suggestive of GM 1 and confirm the diagnosis with enzymatic assay for beta galactosidase enzyme

Cystobiliary fistula in hepatic hydatid disease: diagnostic and therapeutic challenge

In Hydatid disease of the liver cystobiliary fisula [CBF] constitutes an anatomic and a clinicopdthologic entity characterized by the occurrence of a life-threatening cholangitis with increased morbidity and the prolongation of hospital stay. An accurate preoperative diagnosis of this complication is essential for its prompt surgical management. The diagnosis of hydatid disease and the existence of CBF is based primarily on both of the clinical presentation and the characteristic appearance on ultrasonographic [US] and/or computed tomographic [CT] imaging, and confirmed by endoscopic retrograde cholangiography [ERC]. The aim of this work was to study the different diagnostic and therapeutic aspects of cystobiliary fistula in hydatid disease of the liver. From 1996 to 2003, among 63 patients treated for hydatid cysts of the liver, 17 with complicated cysts were included in the current study. They were 11 males and 6 females with a mean age of 34.5 years [ranged from 12 to72 yrs]. According to the clinical presentation, they were divided into 3 groups; group A: nine patients presented with cholangitis, group B: five patients had history of jaundice and group C: three patients presented with jaundice. In 14 patients [groups A and B], the diagnosis of CBF was suspected by abdominal US and/or CT imaging and confirmed by ERC. In the remaining 3 patients [group C], CBF was not documented and they were excluded. Preoperative endoscopic sphencterotomy ES was done in group A with retrieval of hydatid daughter cysts. Among the patients of group A, Seven patients [subgroup Al] were subsequently submitted to surgery entailing endocystectomy in 5 and hepatic resection in two. The remaining 2 patients in group A [subgroup A2] were managed by endoscopic therapy only. Patients of group B [n = 5], were not submitted to preoperative ES and were subsequently managed by hepatic resection in one patient and endocystectomy in four. There was no mortality in the studied group. Postoperative bile leak occurred in four cases; one after hepatic resection and three after endocsytectomy in group B for whom preoperative endoscopic sphincterotmy [ES] was not done. In contrast, none of the patients who were submitted to preoperative ES [subgroup Al] had bile leak. Postoperative wound infection was reported in three patients and minimal subphrenic collection that was aspirated under US guidance was in two. A chest complication in the form of atelecatasis was recorded in one patient. The mean hospital stay was 12.4 days. All patients received albendazole treatment. Surgery still remains the treatment of choice for hydatid cysts of the liver complicated with cystobiliary fistula [CBF]. The results of this work highlight the validity of diagnostic ERC in confirming the diagnosis of CBF in suspected patients with complicated hydatid cysts of the liver. Also, therapeutic ERC has a place in the treatment algorithm of CBF as it was found to be a safe and a reliable therapeutic alternative especially in high risk patients for surgery

Ultrasonographic triangular cord [TC] sign: a predictor of the type and outcome of biliary atresia

To study the accuracy of triangular cord [TC] sign in the diagnosis of biliary atresia [BA], and its validity in predicting the type and outcome of BA, patients treated for BA at the department of surgery. National Liver Institute, were included. Pre-operatively, the same radiologist examined all patients, with special emphasis on detecting the triangular cord [TC] sign if present. Operative findings included the presence or absence of fibrotic remnants at the porta-hepatis for correlation with the TC sign detected by ultrasound [US]. The type of biliary atresia [BA] was diagnosed and confirmed after intra-operative cholangiography. Postoperative data included routine laboratomy work-up, which was done weekly for a month, and monthly thereafter. The outcome was evaluated regarding achievement or not of restoration of bile drainage, frequency of postoperative cholangitic attacks, other morbidity and mortality. Thirty-eight patients treated for BA were included. They were 21 males and 17 females with a mean age of 8l.4 days [range 50-130]. The TC sign was detected in 93.3% of infants with type III BA, and absent in all cases of type II and I. The sensitivity and specificity of the TC sign in the diagnosis of type III BA were 93.3% and 100% respectively. The positive and negative predictive values were 100% and 80% respectively. The outcome of patients was categorized according to the achievement of bile flow restoration, and the presence or absence of jaundice into three groups: group A; became non-icteric [n = 7], group B; stool became colored but remained icteric [n = 23], and group C; remained icteric with clay stool [n = 5].Attack of acute cholangitis were more frequent [17/28:60.7%] among the icteric patients in groups B and C than the non-icteric patients in group A [2/7:28.6%]. Among the patients with type III BA, the TC sign usually indicates advanced fibrosis. All patients older than 60 days had a positive TC sign, and in whom, only 1 out of 2 7 patients [3.7%] achieved complete biliary drainage. Two of the 3 patients with a negative TC sign and type III BA achieved complete biliary flow restoration. Overall mortality was 16 out of 38 [42.1%]; four of them were lost during follow-up and considered as mortality. This study showed that detecting the triangular cord [TC] sign ultrasonographically might be a bad prognostic index, predicting failure of restoring biliary flow after surgery. Further large studies with longer follow-up period are recommended

Chronic anovulation: its phases and the associated hormonal perturbation

A total of 230 cases of infertility due to anovulation was selected for this study. Amenorrhea, PCOs, galactorrhea and hirsutism were clinically associated with these cases. FSH, LH, PRL, E2, free testosterone and DHEA-S04 were assayed in all cases by IRMA and RIA methods. One- and two-gravida was found in 102 cases and nulligravidae in the rest. Anovulation was proved in all cases by endometrial biopsy. All cases were assessed clinically for the progress of the disease and to exclude other causes of infertility. It was concluded that chronic anovulation must be considered a single clinico endocrinal entity with variable phases. Accordingly, hormonal assay is essential to confirm the diagnosis and to determine the state of chronicity or its phase

correlation between the functional-morphology of the lingual apparatus and feeding behaviour of the Egyptian black kite, milvus migrans aegyptius

The anatomy and function of the lingual apparatus of the Egyptian kite, Milvus migrans aegyptius, are given in the present work. This bird is belonging to the catch-and-killing group. Preys are catched with the strong feet, killed and cut into pieces with its sharp curved beaks. Food pieces are manipulated into the buccal cavity by a well developed lingual apparatus. The tongue of Milvus is highly mobile due to the presence of: a] an anterior cartilaginous portion of paraglossale, b] foramen paraglossalis, c] skeletal hyoid elements having two types of articulations: diarthrosis and synchondrosis, d] strong hyoid suspension with the skull through the Fasciae vaginales hyoidei. The good manipulation of food pieces by the fleshy tongue is due to the following characters. 1- The presence of a strong keratinized epithelium, the lingual nail, which underleis the anterior portion of the tongue. 2- Very well developed protractor and retractor muscles to increase the efficiency of the tongue during its slow movements in the buccal cavity, to force fully push of the food bolus into the oesophagus. 3- Dorsal ridges on the dorsal surface of the free portion of the tongue. 4- Numerous lingual papillae. 5- Four paired and one unpaired developed salivary glands enabling the tongue in the transconfiguration during the feeding mechanism. An evaluation of the obtained results, as well as a comparison with other birds of different feeding behaviour were discussed

Neurobrucellosis; a clinical experience

The study included 15 patients with neurobrucellosis referred for accurate evaluation of their obscure neurological deficits. Patients were grouped into 8 cases with CNS infection [4 cases with meningitis, 3 cases with encephalitis, 1 case with meningoencephalitis], 2 cases with myelopathy [one suffering from compression myelopathy at C5, and one suffering from myelitis at D11 - 12, 2 cases with isolated mononeuritis [one with III nerve, and with radial nerve affection], 2 cases with polyneuropathy [one with pure motor polyneuropathy and one with sensorimotor affection] and one case with meningovascular brucellosis presented with hemiparesis. ELISA test for blood and CSF seemed to be the most accurate diagnostic tool. A definite therapeutic response was found in all patients using a combination of trimethoprim sulfamethoxasole and rifampicin. Neurobrucellosis should be included in the differential diagnosis of any unexplained neurological syndrome in certain areas of the world including Egypt

Visual problems in developmental cataract

The visual problems arising from early visual deprivation as amblyopia, nystagmus, strabismus and disturbances of binocular functions are studied in fifty cases with developmental cataract

Value of electrophoresis of tears in diagnosis of dry eye syndrome

Fifty cases of dry eye syndrome based on clinical symptoms, diminution of Schirmer's test and a low tear film break up time were subjected to electrophoresis of tears in order to study the glandular function in dry eyes syndrome, and to establish both diagnosis and prognosis