Combined Alport syndrome,Klinefelter syndrome and Fanconi syndrome in a Chinese boy

Alport syndrome (AS) is a progressive renal disease characterized by hematuria and progressive renal failure. X-linked dominant (XLAS) is the major inheritance form, accounting for almost 80% of the cases, caused by mutations in COL4A5 genes. Klinefelter syndrome (KS) is the most common genetic cause of human male gonadal dysgenesis. AS and KS are both rare disease, there are only three cases of combined AS and KS in the literatures. Fanconi syndrome (FS) caused by AS is also very rare. We report here the first case combined AS, KS and FS in a Chinese boy. We suggest that the severe renal phenotype and FS might be due to the two homozygous COL4A5 variants in our boy, and cases of AS combined KS will be good research objects for X chromosome inactivation.     

The ‘forgotten rubber band’ syndrome – A systematic review of a uniquely ‘desi’ complication with a case illustration

BackgroundOnce an exceedingly rare entity, multiple cases of forgotten rubber band syndrome or the so-called ‘dhaaga’ syndrome have now been reported in the literature.ObjectivesTo conduct a thorough and systematic review of the literature for all articles reporting a chronic type of rubber band syndrome and to present an additional similar case as an illustration.Study designSystematic review and case report.MethodologyPubMed, EMBASE and Google Scholar databases were searched for relevant articles using different combinations of the keywords till 20^th June 2017. All articles reporting cases of chronic rubber band syndrome with a discharging sinus were included. Pearling of the bibliographies of selected articles was conducted to locate articles missed by the primary database search. Data from these reports were collected on pre-defined forms and the results were analysed.ResultsA total of 15 cases have been reported in the literature so far and all cases are from India. Thirteen of these have been reported in the wrist region. Median duration of presentation is 7.6 months after the application of elastic band. Characteristic clinical signs are a circumferential linear scar with discharging sinus (multiple sinuses noted in around one-fourth of the cases). ‘Soft tissue constriction sign’ on plain radiograph is pathognomonic for this condition. Rate of missed/misdiagnosis is very high (46.7%) and it has been confused with tubercular osteomyelitis which is endemic in India. All cases responded to surgical debridement of circumferential fibrous tissue and foreign body removal with good functional outcomes.ConclusionsA high index of suspicion must be maintained for this ‘syndrome’ in chronic osteomyelitis cases presenting with a linear, circumferential scar and discharging sinus in India. Soft tissue constriction sign on plain radiographs are pathognomonic.     

Anesthetic management of a child with chromosome 22q11 deletion syndrome

Chromosome 22q11 deletion syndrome (22q11DS) is a congenital anomaly characterized by cardiovascular, oropharyngeal, immunologic, endocrine, and neurodevelopmental abnormalities. We successfully managed a 6-year-old girl with 22q11DS with general anesthesia. Potential problems in anesthetic management of patients with 22q11DS are reviewed.     

Fibrous dysplasia of bone and the Weil-Albright syndrome

Summary Four patients with monostotic and nine with polyostotic fibrous dysplasia of bone, including one with the classical Weil-Albright syndrome and a male child who may have had this syndrome, are presented. While monostotic forms affect adults and are amenable to curative surgery, polyostotic involvement may become evident in childhood and early infancy, and represent a difficult therapeutic problem. Screening of the skeleton is essential for proper diagnosis and treatment, and should be achieved by total body scan in preference to a complete radiological survey. Biopsy is of particular importance in monostotic cases. The course of polyostotic fibrous dysplasia of bone is not predictable and depends partly upon the unassessable osteogenic potential of the bone, and also on surgery. The Weil-Albright syndrome and its variants are no worse than polyostotic fibrous dysplasia. Orthopaedic treatment deals with pathological fractures and with the prevention and correction of deformities, particularly of coxa vara. Sufficient stability of diaphyseal and metaphyseal lesions of the femur and tibia can usually be provided by intramedullary fixation, which needs to be left, or exchanged, at least until the end of adolescence. Extensive lesions of the proximal femur make aggressive surgery necessary. Pelvic involvement and destruction of the hip joint preclude surgery and require the use of calipers.

---

Résumé Présentation de 13 malades atteints de dysplasie fibreuse, 4 formes mono-osseuses et 9 poly-osseuses dont une comportant le syndrome de Weil-Albright classique et une autre pouvant comporter ce syndrome chez un jeune garçon. Tandis que les formes mono-osseuses surviennent chez l'adulte et peuvent être traitées chirurgicalement, les atteintes poly-osseuses apparaissent chez l'enfant et le nourrisson et posent de difficiles problèmes thérapeutiques. Un bilan squelettique est indispensable pour porter un diagnostic correct et entreprendre un traitement, il sera réalisé de préférence par une scintigraphie de l'ensemble du corps plutôt que par un examen radiologique complet du squelette. La biopsie est particulièrement indiquée dans les formes mono-osseuses. L'évolution des formes poly-osseuses de la dysplasie fibreuse est imprévisible et dépend en partie du potentiel ostéogénique qui ne peut être évalué et également de la chirurgie. Le syndrome de Weil-Albright et ses variantes ne sont pas plus graves que les formes poly-osseuses. Le traitement orthopédique s'adresse aux fractures pathologiques et vise à prévenir ou à corriger les déformations, tout particulièrement les coxa-vara. L'enclouage centro-médullaire renforce habituellement de façon satisfaisante les lésions diaphysaires ou métaphysaires du fémur ou du tibia, mais le matériel devra être retiré ou échangé jusqu'à la fin de l'adolescence. Les lésions étendues de l'extrémité supérieure du fémur peuvent nécessiter une chirurgie plus aggressive. L'atteinte du bassin et la destruction de la hanche sont au delà des possibilités chirurgicales et nécessitent le recours à l'appareillage externe.

     

Tubulointerstitial nephritis and uveitis syndrome (TINU): a step forward to understanding an elusive oculorenal syndrome

In this issue of NDT, Sartelet et al. [1] provide an interestingstudy on Tubulointerstitial Nephritis and Uveitis syndrome (TINU),an oculorenal syndrome the pathophysiology of which is stillpoorly understood. TINU is a rare disease, first described in 1975 by Dobrin [2]in two adolescent girls, in whom non-caseating granulomas werefound in the bone marrow and in the lymph nodes, in associationwith anterior uveitis and tubulointerstitial nephritis. Sincethen, more than 200 cases have been reported in the ophthalmologicand paediatric literature,     

Laparoscopic treatment of Dunbar syndrome: A case report

BackgroundDunbar syndrome is a rare disorder due to external compression of the celiac trunk by the median arcuate ligament. The symptoms include abdominal pain, nausea and vomiting. Laparoscopic treatment was suggested as a safe procedure. The aim of this study is to present a case of Dunbar syndrome underwent laparoscopic treatment.CasepresentationA 17-year-old female patient presented at emergency room with upper abdominal pain and dyspepsia, related to food intake. A selective arteriography of the celiac trunk revealed stenosis due to compression of the celiac artery. The decompression of the celiac trunk by the median arcuate ligament was performed. Postoperative course was uneventful and the patient was discharged on the 5th postoperativeConclusionsLaparoscopic division of the arcuate ligament in patients with Dunbar syndrome is feasible and safe. This procedure can be performed uneventful in order to restore quality of life of the patient.     

Lowe's syndrome with Fanconi syndrome for ocular surgery: perioperative anesthetic considerations

Lowe's syndrome is a rare inherited metabolic disorder characterized by mental retardation, kidney malfunction, and abnormalities of the eyes and bones. A 4 month-old child with Lowe's and Fanconi's syndrome, undergoing bilateral congenital cataract surgery, is presented. Preoperative electrolyte imbalance was corrected by potassium, calcium, magnesium, phosphate, and bicarbonate supplementation. Anesthesia was administered uneventfully using appropriate anesthetic agents and monitoring. Adequate preoperative evaluation and optimization, along with selection of anesthetic agents and fluid and electrolyte management with appropriate perioperative monitoring, is key to a successful outcome.     

Autoerythrocyte sensitization (Gardner-Diamond) syndrome mimicking compartment syndrome

We report a case with an unusual manifestation of autoerythrocyte sensitization syndrome (Gardner-Diamond syndrome). The patient had the clinical signs of compartment syndrome of the forearm requiring fasciotomy. Dermatological signs identical to Gardner-Diamond syndrome should alert the physician to avoid unnecessary fasciotomy, as these patients respond well to psychiatric treatment as in the present case.     

Hypoandrogen-metabolic (HAM) syndrome: an important men's health issue

Hypoandrogenaemia (hypogonadism, hypotestosteronaemia) may be a common accompanying factor in men with the metabolic syndrome and together they may be considered as a specific entity, the hypoandrogen-metabolic (HAM) syndrome. Both hypoandrogenaemia and the metabolic syndrome are common and their prevalence increases with age. Hypoandrogenaemia may be an aetiological factor in the development of the metabolic syndrome and both share similar co-morbid factors. Obesity, low androgen levels and the metabolic syndrome are common findings in Western middle-aged and elderly men and place them at an increased risk for type 2 diabetes, cardiovascular and coronary heart disease. In the absence of contraindications, men with HAM and symptoms of androgen deficiency may be managed by testosterone replacement therapy along with weight reduction and other measures to normalise glucose, insulin, lipid and blood pressure control.     

Testicular Biopsy and Hormonal Study in a Male with Noonan''s Syndrome

The testicular biopsy study of a 17-year-old male with Noonan's syndrome revealed seminiferous tubules of reduced diameter with hypospermatogenesis. Many spermatocytes underwent degeneration and many spermatids developed abnormal. The Sertoli cells were similar to immature Sertoli cells. Fully differentiated Leydig cells were rare while precursor Leydig cells were numerous. Both gonadotropin and testosterone levels were low, and a lack of response to LH-RH as well as to clomiphene was found. The testicular biopsy performed at 20 years of age revealed a certain maturation of the seminiferous tubules which increased the germ cell number. The abnormalities in the spermatogenesis as well as the immature appearance of Sertoli cells continued. Leydig cells were more numerous and showed a certain development without reaching the normal pattern. Gonadotropin levels were normal while testosterone levels low. The response to LH-RH was increased and the absence of response to clomiphene persisted. These features suggest a delayed puberty.