Treatment of steroid-resistant post-transplant nephrotic syndrome with cyclophosphamide in a child with congenital nephrotic syndrome

A child with congenital nephrotic syndrome underwent renal transplantation, was treated for acute rejection, and then developed nephrotic syndrome and renal failure. He was felt to have minimal change disease on allograft biopsy, but failed to respond to therapy with corticosteroids. Cyclophosphamide was substituted for cyclosporine and rapidly induced a complete remission of his nephrotic syndrome. We feel that this case not only represents an important example of a useful therapeutic approach to the child with congenital nephrotic syndrome who develops nephrotic syndrome post transplantation, and also raises questions concerning the pathogenesis of congenital nephrotic syndrome.     

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.     

Roberts-SC syndrome, a rare syndrome and cleft palate repair

Roberts SC syndrome is a rare syndrome with only 17 previously recognized patients reported in medical literature. The syndrome is characterized by multiple malformations, particularly, symmetrical limb reduction, craniofacial anomalies such as bilateral cleft lip and palate, micrognathia, and severe growth and mental retardation. Our patient, a young child of five years having Roberts-SC, was successfully operated for cleft palate under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed in this report.     

Anaesthetic and airway management in a child with Hanhart's syndrome

Hanhart's syndrome (oromandibular-limb hypogenesis syndrome) is a rare disease characterized by hypoglossia/aglossia, various distal limb defects and micrognathia. Difficult airway due to micrognathia may complicate anaesthetic management in this syndrome. We describe the anaesthetic management of a child with Hanhart's syndrome undergoing plastic reconstructive surgery.     

The anaesthetic management of a case of Kawasaki's disease (mucocutaneous lymph node syndrome) and Beckwith-Weidemann syndrome presenting with a bleeding tongue

An unusual case of a 13-month-old child with Kawasaki's disease and the Beckwith-Weidemann syndrome is presented. The child, while anticoagulated with warfarin and aspirin to prevent extension of a coronary artery thrombus, fell and lacerated the tongue resulting in haemorrhage and significant swelling. The ongoing haemorrhage, combined with difficulty in securing venous access resulted in the child becoming shocked. Surgical intervention was required to stem the haemorrhage. The anaesthetic management of a shocked child with a coronary artery aneurysm and thrombosis, a potentially difficult airway and a full stomach is described.     

Morgagni hernia mimicking pneumonia in Down syndrome

Down syndrome patients are immunodeficient and commonly suffer from respiratory infections. Two children with Down syndrome were referred for evaluation of recurrent pneumonia accompanied by persistent infiltrate on chest radiographs. In both cases the radiographic abnormalities were actually found to be Morgagni hernia. When a child with Down syndrome has a persistent lower lobe infiltrate on chest radiograph, the possibility of a diaphragmatic defect should be entertained.     

Tumour lysis syndrome during anaesthesia

We describe a child who developed acidosis, hyperkalaemia and cyanosis while emerging from an otherwise uneventful anaesthetic. A diagnosis of tumour lysis syndrome was suspected and confirmed biochemically. Although this syndrome is usually associated with chemotherapy and has been described to occur spontaneously, it has not previously been reported as being associated with anaesthesia.     

Anaesthesia in an infant with Joubert''s syndrome

The presentation and management of a child with Joubert's syndrome is outlined with specific reference to the problems of opioid sensitivity and abnormal control of respiration.     

Recurrent lymphomatoid papulosis associated with nephrotic syndrome. An occurrence of uncertain origin

We report on a 10-year-old child with nephrotic syndrome who developed recurrent lymphomatoid papulosis (LYP) 60 months after the first episode of proteinuria. LYP appeared when the child was taking low-dose cyclosporin and disappeared after the drug was replaced by prednisone at doses utilized for nephrotic syndrome (2 mg/kg). During the tapering of steroids, when the child was treated with low-dose prednisone (0.2 mg/kg), both LYP and nephrotic syndrome started again and required the reintroduction of prednisone to restore a normal clinical situation. This is the first case of LYP occurring in concomitance and synchronous with nephrotic syndrome. LYP was unrelated to cyclosporin (second episode after its withdrawn) but preceded the recurrence of proteinuria, suggesting a relationship with the disease activity. Even though the etiology of LYP is, in this case, uncertain, it should be considered as a clinical association of nephrotic syndrome in children and also included among potential triggers of the disease.     

Hereditary osteo-onychodysplasia or nail-patella syndrome: description of one case and literature review

Abstract  Hereditary osteoonychodysplasia (HOOD) or nail-patella syndrome (NPS) is a rare autosomal dominant disorder characterized by abnormal nail development and growth with hypoplastic highriding or absent patellae. Congenital dislocation of the radial head and bony deformities particularly around the pelvis (iliac horns) are also features. Occasionally renal dysfunction and proteinuria may be present. We report a case of nail-patella syndrome and review the literature of this rare hereditary condition.     

Congenital nephrotic syndrome

Congentital nephrotic syndrome (CNS) is an uncommon disorder. Several different diseases may cause the syndrome. These may be inherited, sporadic, acquired or part of a general malformation syndrome. The problems associated with nephrotic syndrome in early infancy are divided into three parts: diagnosis, treatment and prenatal diagnosis. Accurate diagnosis is essential for the treatment, genetic counselling and prenatal diagnosis. The ultimate curative treatment of CNS is renal transplantation. The supportive treatment before the transplantation is of utmost importance in order to maintain a reasonable clinical condition and prepare the child for the dialysis and renal transplantation. Prenatal diagnosis is possible in some types of CNS by determination of the maternal serum and amniotic fluid alpha-fetoprotein (AFP). Increased AFP indicates fetal proteinuria, and thereby nephrotic syndrome before birth. In some cases with the onset of proteinuria after birth prenatal AFP measurement does not detect the disease.     

A case report of B-cell lymphoma masquerading as superior mesenteric artery syndrome

Superior mesenteric artery (SMA) syndrome is a rare cause of intestinal obstruction, especially in children, whereas intussusception is far more common. We report the case of a child, who after an episode of acute weight loss presented with features suggestive of SMA syndrome. This child subsequently was shown at operation to have disseminated lymphoma causing a secondary high jejunal intussusception and tumor involvement of retroperitoneal lymph nodes causing compression of the third part of the duodenum. This case emphasizes that the SMA syndrome should be considered a sign rather than a diagnosis in itself. As such, an active search should be made to determine the cause of the condition. Routine preoperative imaging is recommended.     

Anaesthesia for a child with Walker-Warburg syndrome

Walker-Warburg syndrome (WWS) is a rare lethal autosomal recessive disorder manifested by characteristic central nervous system and eye malformations. We have not come across reports of general anaesthesia in a child with WWS in the English literature. We report a case of general anaesthesia in a 12-month-old male child with WWS. The child also had bilateral cleft lip, cleft palate, urogenital malformation and hydronephrosis. Despite many potential anaesthesia concerns, anaesthesia was uneventful in this child.     

The popliteal web syndrome

Summary A male child having multiple congenital abnormalities diagnosed as popliteal web syndrome is presented.     

Nail-Patella syndrome: A case report and anesthetic implications

PURPOSE: To report a case of asystole during combined epidural and general anesthesia occurring in a patient with Nail-Patella syndrome (NPS), and to review the management and anesthetic implications of this rare genetic syndrome. CLINICAL FEATURES: A 64-yr-old male with NPS, renal impairment and coronary artery disease presented for right hemicolectomy for colon cancer. Following initiation of surgery and during insertion of a nasogastric tube there was sudden loss of the patient's pulse oxymetry, and arterial pressure waveforms with an asystolic electrocardiogram signal. Atropine 0.6 mg i.v. was administered and after an asystolic period of 20-30 sec, myocardial activity commenced at 110 beatsxmin(-1) with return of normal vital signs and no further sequelae. CONCLUSIONS: Nail-Patella syndrome can present with an array of anomalies that may be associated with perioperative complications. Glaucoma, nephropathy, vasomotor dysfunction, fragile teeth, abnormal muscle, skeletal and nerve anatomy as well as involvement of the central and/or peripheral nervous systems are common findings. In this setting it is postulated that a vasovagal reflex from esophageal stimulation by nasogastric tube placement may have caused the asystolic event. This response could have been exaggerated by the sympatholytic combination of neuraxial block, preoperative beta-blockade, and potential autonomic dysfunction secondary to NPS. Awareness of this uncommon disease and its presentation may serve to caution the anesthesiologist regarding the perioperative implications of patients with this syndrome.     

Anesthetic implications of the catastrophic antiphospholipid syndrome

The antiphospholipid antibody syndrome (or the anticardiolipin antibody syndrome) is characterized by the presence of autoantibodies. Its major association is with systemic lupus erythematosus. 'Catastrophic' antiphospholipid syndrome (CAPS) is defined as an accelerated form of APS usually resulting in multiorgan failure and can be precipitated by surgery. We present the case of a 12-year-old male child who presented for enucleation of his left eye for fungal endopthalmitis. This patient had a history of CAPS 2 months before surgery with myocardial, gastrointestinal, renal and laryngeal involvement that improved on aggressive treatment and was subsequently managed on an outpatient basis for 2 months before presenting for enucleation. To the best of our knowledge, this is the first case of CAPS in a child reported in the anesthetic literature. Further aspects of this puzzling condition and its anesthesia implications are discussed.     

Gorham syndrome: anaesthetic management

Gorham syndrome is a rare chronic disease of children and young adults, featuring massive osteolysis with pathological fractures and complicated by respiratory and neurological deficits. To date, 175 cases have been reported in the literature but information on anaesthetic management is sparse. We present a child with Gorham syndrome who underwent urgent surgical medullary decompression and who subsequently developed bilateral pleural effusions.     

Anesthetic management of a child with Langer-Giedion (TRPS II) syndrome

We describe the anesthetic and perioperative management of a child with Langer-Giedion syndrome (trichorhinophalangeal syndrome type II). This is a very rare genetic syndrome caused by 8q chromosome deletion. The clinical features of this syndrome include craniofacial and urogenital abnormities, variable postnatal growth deficiency with mental retardation, multiple exostoses, hyperflexible joints, and recurrent respiratory tract infections. Potential perioperative problems are highlighted.