Severe malabsorption in autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy syndrome successfully treated with immunosuppression

Accepted 2 January 1997A 15 year old boy with autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy syndrome suffered recurrent episodes of severe intractable diarrhoea, steatorrhoea, and hypocalcaemia. The only treatment modality, which controlled the malabsorption syndrome, was immunosuppression with intravenous high dose methylprednisolone and oral methotrexate maintenance therapy.     

Severe hypercalcemia associated with Williams syndrome successfully treated with pamidronate infusion therapy

Infantile hypercalcemia becomes manifest in 15% of patients with Williams syndrome (WS) and generally is not clinically severe. However, some patients with WS can have severe hypercalcemia and do not respond well to traditional therapies. Recently, pamidronate has been used in the treatment of childhood hypercalcemia associated with many disorders, but there is little experience with the treatment of hypercalcemia with bisphosphonates in patients with WS. We present a 17-month-old female patient, who had been diagnosed as WS by genetic analysis, admitted to our clinic for the investigation of severe hypercalcemia (4.02 mmol/L). Because the patient did not respond very well to fluid administration, furosemide infusion, and dietary calcium restriction, pamidronate infusion was performed and calcium levels returned to normal within 2 days. This case report is presented to point out that pamidronate therapy seems to be a safe and efficient way of treating life-threatening hypercalcemia in WS.     

Severe infantile hypercalcemia associated with Williams syndrome successfully treated with intravenously administered pamidronate

Infantile hypercalcemia occurs in approximately 15% of children with Williams syndrome (WS) and is typically not clinically severe. We report on 3 children with WS (confirmed with fluorescent in situ hybridization probes) who presented with severe symptomatic hypercalcemia. The first patient's severe hypercalcemia resolved with traditional therapies, whereas the subsequent 2 patients were treated with intravenously administered pamidronate after traditional measures proved only partially successful. Besides asymptomatic mild hypocalcemia, there were no complications resulting from pamidronate administration. We conclude that WS-associated hypercalcemia can be quite severe and symptomatic and that it can be successfully and safely treated with intravenously administered bisphosphonate in some cases.     

An 11-year-old girl with reflex sympathetic dystrophy successfully treated by thoracoscopic sympathectomy

Abstract We report on an 11-year-old girl with reflex sympathetic dystrophy (RSD) complaining of severe pain in her right upper extremity. Oral administration of narcotics or non-steroid anti-inflammatory drugs gave no relief in pain. Thoracoscopic electrocauterization of the thoracic sympathetic ganglion at the level of T3 was performed 3 months after the start of symptoms, and brought complete resolution of pain.     

Severe acute hypertriglyceridemia during acute lymphoblastic leukemia induction successfully treated with plasmapheresis

Children suffering from Acute Lymphoblastic Leukaemia (ALL) treated with asparaginase and corticosteroids are at risk of developing severe lipid abnormalities. The authors report the case of a 10-year-old male with extremely high plasma triglyceride concentrations (4,000 mg/dl) during the induction phase of ALL associated with mild pancreatitis. Hypertriglyceridemia was successfully managed with plasmapheresis with a decrease in triglyceride levels to 590 mg/dl. Apheresis appears to be safe and effective in reducing hypertriglyceridemia and preventing related complications.     

Severe disseminated adenovirus infection successfully treated with a thymic humoral factor, THF.

Adenovirus and other usually benign viral infections may occasionally be associated with severe fulminant disease, often accompanied by acute acquired cellular immunodeficiency. Thymic humoral factor derived from calf thymuses has been demonstrated to have the capacity to restore the immunocompetence of immature, incompetent T cells. This factor was used in the treatment of a 3 1/2-year-old boy who was critically ill with an adenovirus infection and presented evidence of immunocellular deficiency. Within less than 48 hours after the institution of treatment with thymic humoral factor there was a dramatic, progressive clinical improvement, with restoration of the cellular immunocompetence. It is suggested that thymic humoral factor may be beneficial in the treatment of severe viral infections associated with depressed cellular immunocompetence.     

Severe gastric variceal bleeding successfully treated by emergency splenic artery embolization

Bleeding from gastric varices due to splenic vein obstruction is extremely rare in children, but it can be catastrophic. Reported herein is the case of a teenager with splenic vein thrombosis and chronic decompensated liver disease from autoimmune hepatitis who presented with massive gastric variceal bleeding. Standard medical management did not control the bleeding. Due to decompensated liver disease and continuous active bleeding, emergency partial splenic artery embolization was preferred over splenectomy or a shunt procedure. Bleeding was successfully controlled by partial splenic artery embolization by decreasing the inflow of blood into the portal system. It is concluded that emergency partial splenic artery embolization is a safer alternative life‐saving procedure to manage severe gastric variceal bleeding due to splenic vein obstruction in a patient with high surgical risk. To our knowledge, only one other patient with similar management has been reported in the pediatric age group.     

Severe GABAA receptor encephalitis without seizures: A paediatric case successfully treated with early immunomodulation

Background

Autoimmune-mediated processes are the driving force behind many neurological diseases. Autoimmune encephalitis, a group of syndromes, mediated by or at least associated with autoantibodies against neuronal tissue, have gained increasing importance especially in paediatric neurology. Since the first NMDAR encephalitis was described a growing number of patients with encephalopathy, seizures and psychiatric symptoms were found to suffer from treatable autoimmune disorders. Recently a severe form of encephalitis associated with GABA_AR antibodies was described showing extensive MRI abnormalities and refractory seizures.

Congenital cytomegalovirus infection and Wiskott-Aldrich syndrome successfully treated with unrelated cord blood transplantation

We report a successful umbilical cord blood transplantation (UCBT) in an 8-month male with Wiskott-Aldrich syndrome (WAS) and congenital cytomegalovirus (CMV) infection. The child presented at 3 months of age with symptomatic thrombocytopenia and CMV infection. Despite appropriate antiviral treatment no rise in the platelet count was observed. Genetic analysis confirmed the diagnosis of WAS. The clinical course was complicated by severe CMV retinitis with bilateral retinal hemorrhages and renal vasculitis. He underwent unrelated UCBT resulting in a rapid resolution of autoimmunity and thrombocytopenia.     

Vitamin D metabolism in children with malabsorption syndrome

In 16 children with malabsorption syndrome, out of which 5 had impaired lipid absorption or diarrhoea, and in 14 children in the control group the concentrations of vitamin D and 25 OH D3 were determined after oral administration of vitamin D in dose of 1200 U/kg.b.wt. or 12000 U/kg.b.wt. No decrease in initial 25 OH D3 concentrations was noted in children with malabsorption syndrome (40,5 +/- 0,7 ng/ml) in comparison with the control group (40,0 +/- 0,4 ng/ml). In children with impaired lipid absorption and diarrhoea the 25 OH D3 concentration was 33,6 +/- 2,4 ng/ml. After oral administration of vitamin D in small doses no differences were noted in the increase in vitamin D and 25 OH D3 concentrations in children with malabsorption syndrome or the control group. After administration of vitamin D in the dose 10 times higher no difference in the increase in vitamin D concentration was noted in children with malabsorption syndrome and the control group. However the increase in 25 OH D3 concentration in children with malabsorption syndrome was 49,8 +/- 1,2 ng/ml and 145,0 +/- 3,5 ng/ml in the control group. In the children with impaired lipid absorption and diarrhoea decreased vitamin D and 25 OH D3 concentrations were noted. This means that physiological doses of vitamin D in children with malabsorption syndrome are sufficient to supply vitamin D. Diarrhoea and impaired lipid absorption however, are indications for stimulation of skin synthesis of vitamin D.     

Severe lactic acidosis complicating metformin overdose successfully treated with high-volume venovenous hemofiltration and aggressive alkalinization.

OBJECTIVE: In this report of a near-fatal metformin ingestion successfully treated with alkalinization and high-volume hemofiltration, we discuss the management of severe lactic acidosis and demonstrate that early aggressive intervention resulted in a positive outcome. DESIGN: Case report. SETTING: A tertiary pediatric intensive care unit. PATIENT: The patient was a healthy 14-yr-old female found by a sibling following a seizure of unknown duration, thought to be secondary to hypoglycemia as a consequence of a self-ingestion of metformin, atenolol, and diclofenac. She responded well to advanced resuscitation but progressively developed severe lactic acidosis, bradycardia, and hypotension in addition to persistent hypoglycemia. The peak lactate level was 37.5 mmol/L with an albumin corrected anion gap of 65 mmol/L. INTERVENTIONS: She was treated with high-volume venovenous hemofiltration and aggressive alkalinization therapy. The latter facilitated control of severe acidosis, whereas the hemofiltration removed the ingested drugs in addition to endogenously produced lactate precipitated by metformin. CONCLUSIONS: In this case, early and aggressive treatment of the acidosis and cardiovascular compromise with inotropes, venovenous hemofiltration, and large doses of sodium bicarbonate in metformin overdose resulted in a successful outcome even in the presence of severe acidosis and very high lactate levels.