Mario G. Bianchetti

Nervous system dysfunction in Henoch–Schönlein syndrome: systematic review of the literature

OBJECTIVEnCNS or peripheral nervous system dysfunction sometimes occurs in Henoch-Schönlein patients.nnnMETHODSnWe review all Henoch-Schönlein cases published after 1969 with CNS dysfunction without severe hypertension and neuroimaging studies (n = 35), cranial or peripheral neuropathy (n = 15), both CNS and peripheral nervous system dysfunction without severe hypertension (n = 2) or nervous system dysfunction with severe hypertension (n = 2). Forty-four of the 54 patients were <20 years of age.nnnRESULTSnIn patients with CNS dysfunction without or with severe hypertension the following presentations were observed in decreasing order of frequency: altered level of consciousness, convulsions, focal neurological deficits, visual abnormalities and verbal disability. Imaging studies disclosed the following lesions: vascular lesions almost always involving two or more vessels, intracerebral haemorrhage, posterior subcortical oedema, diffuse brain oedema and thrombosis of the superior sagittal sinus. Following lesions were noted in the subjects with cranial or peripheral neuropathy without severe hypertension: peroneal neuropathy, peripheral facial palsy, Guillain-Barré syndrome, brachial plexopathy, posterior tibial nerve neuropathy, femoral neuropathy, ulnar neuropathy and mononeuritis multiplex. Persisting signs of either CNS (n = 9) or peripheral (n = 1) nervous system dysfunction were sometimes reported.nnnCONCLUSIONSnIn Henoch-Schönlein syndrome, signs of nervous system dysfunction are uncommon but clinically relevant. This review helps clinicians managing Henoch-Schönlein syndrome with nervous system dysfunction.

Juvenile spring eruption: an outbreak report and systematic review of the literature

Backgroundu2002 Juvenile spring eruption of the helices of the ears is a distinctive sun‐induced condition appearing on the light‐exposed skin of the ears, typically in boys and young men in early spring.

Blistering eruptions in childhood Henoch-Schönlein syndrome: systematic review of the literature

AbstractThe occurrence of blistering eruptions in childhood Henoch-Schönlein syndrome has been so far addressed exclusively in individual case reports. To describe epidemiology, clinical presentation, and therapeutic options in Henoch-Schönlein patients ≤18xa0years of age with blistering eruptions, we completed a systematic literature search. For the final analysis, we retained 39 reports. Ten children with blisters were found in 7 (1.5%) case series containing a total of 666 unselected pediatric Henoch-Schönlein cases. We also found 41 individually documented cases of Henoch-Schönlein syndrome with blistering eruptions. Blistering eruptions and purpura were distributed very similarly, blisters developed concomitantly with palpable purpura or with a latency of ≤14 days, and 80% of the cases remitted within 4xa0weeks with a similar course in children managed expectantly and in those managed with steroids.n Conclusion: Blistering eruptions are rare in Henoch-Schönlein syndrome. They can be a source of diagnostic dilemma but do not have any prognostic value since they almost always spontaneously subside within 4xa0weeks.What is known:• Textbooks and reviews marginally refer to the occurrence of blistering eruptions in children with Henoch-Schönlein syndrome.What is new• Blistering eruptions occur in <2% of cases.• Blisters and purpura are distributed similarly, blisters develop concomitantly with purpura or with a latency of ≤14xa0days.• Almost all cases remit within 4xa0weeks with a similar course in children managed expectantly and in those managed with systemic steroids.

Neonatal Systemic Lupus Erythematosus Syndrome: a Comprehensive Review

Neonatal lupus erythematosus is an uncommon syndrome, which is caused by transplacental passage of maternal autoantibodies to Sjögren’s syndrome A or B autoantigens. The clinical presentation includes distinctive cutaneous lesions resembling those seen in systemic lupus erythematosus, hepatobiliary disease, and cytopenias, which disappear with the clearance of maternal autoantibodies. The most severe presentation is a total atrioventricular heart block, which begins during the second trimester of gestation and is irreversible. The risk of having a child with neonatal lupus erythematosus in mothers who test positive for autoantibodies to Sjögren’s syndrome autoantigens is approximately 2% for first pregnancies or if previous babies were healthy. The risk increases by approximately tenfold if a previous child had neonatal lupus erythematosus syndrome. The diagnosis of neonatal lupus erythematosus is made when the mother has autoantibodies to Sjögren’s syndrome autoantigens, and the fetus or newborn develops atrioventricular heart block, or the newborn develops the typical rash or hepatic or hematologic manifestations in the absence of other explanation. Fetal echocardiography from the 16th to the 26th week of gestation is advised in mothers with autoantibodies to Sjögren autoantigens. The detection of a slow fetal heart rate or the postnatal diagnosis of atrioventricular heart block warrants immediate maternal testing for these autoantibodies if not previously tested.

Testing Na+ in blood

Abstract Both direct potentiometry and indirect potentiometry are currently used for Na+ testing in blood. These measurement techniques show good agreement as long as protein and lipid concentrations in blood remain normal. In severely ill patients, indirect potentiometry commonly leads to relevant errors in Na+ estimation: 25% of specimens show a disagreement between direct and indirect potentiometry, which is ≥4 mmol/L (mostly spuriously elevated Na+ level due to low circulating albumin concentration). There is a need for increased awareness of the poor performance of indirect potentiometry in some clinical settings.

Differential Diagnosis and Management of Fluid, Electrolyte and Acid-Base Disorders

Disturbances involving fluid, electrolyte and acid-base balance are rather common. Very often, more than one disturbance in fluid, electrolyte and acid-base homeostasis concurrently occurs in the same subject. In general, the etiology of fluid, electrolyte and acid-base disorders is straightforward, since the most commonly occurring causes are easily recognized on clinical grounds. In some cases, however, the cause is not readily apparent, and a comprehensive systematic approach is advised. The diagnostic approach to initially unexplained and apparently “isolated” disturbances involving the fluid, electrolyte and the acid-base balance should include both very careful history and physical examination as well as the concurrent assessment of an extended “electrolyte spectrum”. In the setting of initially unclassified and apparently “isolated” disturbances involving the fluid, electrolyte and acid-base balance, the concomitant determination in blood of pH, pCO2, HCO3−, Na+, K+, Cl−, Ca++, Mg++, inorganic phosphate, alkaline phosphatase, total protein level (or albumin), uric acid, urea and creatinine is advised.

Hyperammonemia associated with distal renal tubular acidosis or urinary tract infection: a systematic review

BackgroundHyperammonemia usually results from an inborn error of metabolism or from an advanced liver disease. Individual case reports suggest that both distal renal tubular acidosis and urinary tract infection may also result in hyperammonemia.MethodsA systematic review of the literature on hyperammonemia secondary to distal renal tubular acidosis and urinary tract infection was conducted.ResultsWe identified 39 reports on distal renal tubular acidosis or urinary tract infections in association with hyperammonemia published between 1980 and 2017. Hyperammonemia was detected in 13 children with distal renal tubular acidosis and in one adult patient with distal renal tubular acidosis secondary to primary hyperparathyroidism. In these patients a negative relationship was observed between circulating ammonia and bicarbonate levels (Pxa0<xa00.05). In 31 patients (19 children, 12 adults), an acute urinary tract infection was complicated by acute hyperammonemia and symptoms and signs of acute neuronal dysfunction, such as an altered level of consciousness, convulsions and asterixis, often associated with signs of brain edema, such as anorexia and vomiting. Urea-splitting bacteria were isolated in 28 of the 31 cases. The urinary tract was anatomically or functionally abnormal in 30 of these patients.ConclusionsThis study reveals that both altered distal renal tubular acidification and urinary tract infection may be associated with relevant hyperammonemia in both children and adults.

D-lactic acidosis in humans: systematic literature review

BackgroundD-lactic acidosis is an uncommon and challenging form of metabolic acidosis that may develop in short bowel syndrome. It has been documented exclusively in case reports and small case series.MethodsWe performed a review of the literature in the National Library of Medicine and Excerpta Medica databases.ResultsWe identified 84 original reports published between 1977 and 2017. D-lactic acidosis was observed in 98 individuals ranging in age from 7xa0months to 86xa0years with short bowel syndrome. The clinical presentation included Kussmaul breathing, confusion, slurred speech, and gait disturbances. Furthermore, among 99 consecutive patients with short bowel syndrome, 21 reported having episodes with symptoms consistent with D-lactic acidosis. In addition, D-lactic acid might also contribute to acidosis in diabetes mellitus. Finally, abnormally high D-lactic acid was documented after administration or ingestion of large amounts of propylene glycol, as paraneoplastic phenomenon and perhaps also in a so far poorly characterized inherited inborn error of metabolism.ConclusionsIn humans with short bowel syndrome (or carbohydrate malabsorption), D-lactic acidosis is likely rather common and under-recognized. This condition should be included in the differential diagnosis of unexplained high-gap metabolic acidosis where the anion causing the acidosis is not known. Furthermore, diabetic acidosis might be caused by accumulation of both ketone bodies and D-lactic acid. Finally, there are endogenous sources of D-lactic acid in subjects with propylene glycol intoxication.

Prevalence and Characteristics of Nonblanching, Palpable Skin Lesions With a Linear Pattern in Children With Henoch-Schönlein Syndrome

Importance Linear nonblanching skin lesions are thought to occur very rarely in patients with Henoch-Schönlein syndrome. Objective To examine the prevalence and characteristics of linear nonblanching skin lesions in children with Henoch-Schönlein syndrome. Design, Setting, and Participants A prospective case series was conducted at the ambulatory practice of a hospitalist between January 1, 2010, and December 31, 2015, among 31 consecutive children with Henoch-Schönlein syndrome. Participants Thirty-one consecutive children affected with Henoch-Schönlein syndrome who were from 3.0 to 12.0 years of age (median age, 6.2 years). Main Outcome and Measures Children with Henoch-Schönlein syndrome underwent a careful, structured skin examination established in advance with emphasis on the presence of palpable lesions with a linear pattern. Results Among the 31 children in the study (12 girls and 19 boys; median age, 6.2 years [range, 3.0-12.0 years]), 8 (26%) had linear lesions on the legs, groin, waistline, wrists, or forearms. Patients with or without linear lesions did not differ significantly with respect to sex, age, and cutaneous, abdominal, articular, or renal involvement. Conclusions and Relevance This study illustrates the prevalence and characteristics of linear skin lesions in patients with Henoch-Schönlein syndrome. Patients with symptoms suggestive of this vasculitis should be evaluated for the presence of nonblanching, palpable lesions with a linear pattern.

Cutaneous Manifestations of Small-Vessel Leukocytoclastic Vasculitides in Childhood

In childhood, cutaneous small-vessel vasculitides include Henoch–Schönlein syndrome, a systemic vasculitis, and Finkelstein–Seidlmayer syndrome, a skin-limited vasculitis. Both Henoch–Schönlein and Finkelstein–Seidlmayer syndromes are seen more frequently in white or Asian compared with black children and occur especially in winter and spring with a male-to-female ratio of approximately 2:1. In everyday clinical practice, both conditions are diagnosed on clinical grounds without histological confirmation. The characteristic cutaneous hallmarks of Henoch–Schönlein syndrome include a purpuric rash in all and a subcutaneous edema in approximately every second case, which are often preceded by non-specific red or pink macular elements that mimic a non-itching urticarial rash. Recent data point out that Henoch–Schönlein children often present further cutaneous findings such as Köbnerization, Rumpel–Leede capillary fragility phenomenon, and blistering eruptions. Children with Finkelstein–Seidlmayer syndrome are usually ≤24xa0months of age and not ill-appearing. They present with (a) large, round, red to purpuric plaques (often with a targetoid appearance) predominantly over the cheeks, ears, and extremities and (b) often tender non-pitting edema of the distal extremities, ears, and face (without pruritus). Both in Henoch–Schönlein syndrome and Finkelstein–Seidlmayer syndrome, there is often scrotal involvement. The cutaneous findings remit without sequelae within 2xa0months in Henoch–Schönlein and 3xa0weeks in Finkelstein–Seidlmayer syndrome.