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In most cases, feeding problems in young children are mild and of no consequence. However, it is one of the situations that generate more anxiety in parents and can lead them to incorrect feeding patterns. We present the case of a 20-month-old male child who came to the emergency room with a pathological elevation of alkaline phosphatase secondary to an error in his dietary pattern.

Amaç: Kliniğimizde 3 yıllık bir süre boyunca yüksek plazma ALP düzeylerinin prevalansını ve klinik özelliklerini tanımlamak.Gereç ve Yöntem: artmış ALP düzeyleri olan 5 yaşın altındaki 533 çocuğunu geriye dönük olarak taradık ve frekans, mevsimsel dalgalanma, yaş dağılımı ve cinsiyet farklılıklarını araştırdık.Bulgular: Yirmi dört hasta (% 55.8) kızdı ve yaş ortalaması 7.48 ± 12.77 (1-60) ay idi. Ortalama alkalin fosfataz (ALP) düzeyi 1402.23 ± 440.4 U / L (1038-3135 U / L) ve üst aralıktan 3.33 ± 1.04 (2.47-7.46) kat daha yüksekti. ALP seviyeleri, ortalama 2.5 ± 1.1 (1-5) aylık bir süre içinde normale döndü.Sonuç: Bu iyi huylu antitenin erken tanınması, gereksiz testlerden kaçınmaya yardımcı ollabilir

Transient Hyperphosphatemia of Childhood (HTI), is a benign and self-limiting entity, defined as the serum elevation of alkaline phosphatase (FA), with no evidence of hepatic or bone pathology being of a transient nature and presenting no subsequent sequelae. Classically, a specific entity has been considered according to Kraut's diagnostic criteria: patient less than 5 years old, variable symptomatology, absence of clinical and biological symptoms of liver and / or bone disease, isoenzyme analysis showing a joint elevation of bone and liver fractions Of AF, and subsequent normalization in less than 4 months.

Benign transient hyperphosphatasemia of infancy and early childhood is a self-limiting condition characte-rized by transiently increased serum alkaline phosphatase in the absence of liver, kidney or metabolic bone diseases. It is often accidentally found in children under five years old and it might be associated with a variety of underlying clinical disorders. Its pathophysiology remains unclear. Herein, we report a case of a 4-year-old girl with a 1-year history of persistent oligoarticular Juvenile Idiopathic Arthritis, who was found to have transient hyperphosphatasemia during a periodic check-up. This clinical case underlines the importance of promptly recognizing this benign condition, which avoids unnecessary extensive investigations. publishersversion published

Background Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These defects constitute a subgroup of the congenital disorders of glycosylation (CDG). Seven patients from five families have been reported carrying variants in PIGO that cause an autosomal recessive syndrome characterised by dysmorphism, psychomotor disability, epilepsy and hyperphosphatasemia. Methods Whole exome sequencing was performed in a boy with dysmorphism, psychomotor disability, epilepsy, palmoplantar keratoderma, hyperphosphatasemia and platelet dysfunction without a clinical bleeding phenotype. Results Two novel variants in PIGO were detected. The missense variant encoding p. His871Pro was inherited from the boy’s father while the frameshift variant encoding p. Arg604ProfsTer40 was maternally inherited. Conclusion A boy with two novel PIGO variants is reported. The skin phenotype and platelet dysfunction in this patient have not been described in previously reported patients with PIGO deficiency but it is of course uncertain whether these are caused by this disorder. The literature on PIGO deficiency is reviewed. Electronic supplementary material The online version of this article (doi:10.1186/s13023-017-0654-9) contains supplementary material, which is available to authorized users.

Introduction: Respiratory syncytial virus (RSV) infection is the most common cause of hospitalization in infants and small children. The aim was to present a 13-months old boy diagnosed with acute airway infection, acute otitis media (AOM) and hepatitis during the RSV-infection. Material and methods: Serum catalytic activities of alkaline phosphatase (ALP), aspartate aminotranspherase (AST), alanine aminotranspherase (ALT), gamma glutamyl transpherase (GGT), lactate dehydrogenase (LD), and concentrations of bilirubin were monitored during hospitalization and at control examination. Results: The child had clinical signs and symptoms of respiratory failure, AOM, and laboratory findings of virus infection and liver disease. On admission, catalytic activities of enzymes were markedly increased, especially the activity of ALP (10333 U/L, i.e. 24 fold increase in comparison with the upper reference limit). The highest increased in AST (339 U/L, 4, 5 fold), ALT (475 U/L, 10, 3 fold) and LD (545 U/L, 1, 5 fold) were registered on the 3rd day, and the highest increase in GGT (68 U/L, 3, 1 fold) occured on the 11th day. Seven weeks after discharge AST, ALT, GGT and LD decreased into reference range, and ALP remain mildly increased (478 U/L, 1, 1 fold increase). RSV was confirmed in nasal lavage fluid. Conclusion: Laboratory results in patient with RSV infection needs to be interpreted in the light of both, respiratory and extrapulmonary manifestations of the infection, respectively.

Due to the possibility of underlying hepatobiliaryor bone diseases, the diagnostic work up of a child with elevated alkaline phosphatase (AP) levels can be quite costly. In a significant proportion of these patients, elevated AP is benign, requiring no intervention: hence, known as transient hyperphosphatasemia (THP) of infants and children. A 27-month old previously healthy Caucasian female was found to have isolated elevation of AP four weeks after the initial symptoms of acute gastroenteritis. One month later, when seen in hepatobiliary clinic, signs and symptoms of gastrointestinal, hepatobiliary, or bone disease were absent and physical examination was normal. The diagnosis of THP was made, and, as anticipated, AP levels normalized after four months. Using this case as an example, we suggest an algorithm that can be utilized as a guide in a primary care setting to arrive at the diagnosis of THP and avoid further tests or referrals.

La hiperfosfatasemia transitoria benigna infantil (HTBI) es una entidad en la que se observan marcadas elevaciones de fosfatasa alcalina sérica, sin evidencia clínica, bioquímica ni en exámenes complementarios de patología ósea, hepática, renal o endocrinometabólica. Se presenta el caso de una paciente de ocho meses ingresada por un cuadro febril y elevación importante de fosfatasa alcalina. La HTBI es una entidad frecuente que debe tenerse en cuenta para evitar preocupaciones y exploraciones innecesarias. Si un paciente tiene elevación de fosfatasa alcalina, con exploración física, calcio, fosfatos y perfil hepático normales, se le debe controlar clínicamente y continuar midiendo los niveles de fosfatasa alcalina hasta la normalización. Si persiste elevada tras tres meses, debería investigarse el origen de las isoenzimas y estudiar a familia. Benign transient hyperphosphatasemia of infancy (BTHI) is a condition where disproportionately high levels of serum alkaline phosphatase are observed, without clinical or biochemical evidence of bone, liver, renal or metabolic disease. We report a case of an eight months old patient presenting with fever and important increase of serum alkaline phosphatase. The HTBI is a frequent entity to be considered in order to avoid unnecessary investigations. If a patient has high alkaline phosphatase level, with physical examination, calcium, phosphate and liver normal profile, he/her should be monitored clinically and by measuring alkaline phosphatase levels until normalization. If high level persists after 3 months, the origin of the isoenzymes and a family study should be investigated.

Uvod: Opisuje se slučaj prolazne hiperfosfatazemije u 21-mjesečnog dječaka s ponavljajućom sipnjom tijekom akutnog respiracijskog infekta. Materijali i metode: Određivanje katalitičke aktivnosti alkalne fosfataze provedeno je preporučenom fotometrijskom metodom, a elektroforetsko razdvajanje izoenzima alkalne fosfataze na agaroznom gelu uz obradu seruma lektinom. Rezultati: Tijekom bolničkog liječenja dijete je imalo povećanu katalitičku aktivnost alkalne fosfataze: prvog dana 4109 U/L, šestog dana 2156 U/L. Pri kontrolnom pregledu 27. dana od prijma u bolnicu aktivnost se smanjila na 505 U/L. Elektroforetskim razdvajanjem izoenzima alkalne fosfataze dokazana je elektroforetska vrpca brža od jetreno-koštanog izoenzima, tzv. brza anodna vrpca. Zaključak: Pojava izrazito povećane katalitičke aktivnosti alkalne fosfataze uz tipičnu elektroforetsku razdiobu izoenzima u trajanju od nekoliko tjedana ukazuje na prolaznu hiperfosfatazemiju. Pravodobnim prepoznavanjem izbjegava se daljnja nepotrebna dijagnostička obrada. Introduction: A case of transient hyperphosphatasemia in a 21-month-old boy diagnosed with recurrent wheezing during acute respiratory infection is described. Materials and methods: Determination of alkaline phosphatase catalytic activity was performed by the recommended photometric method, and elec-trophoretic separation of alkaline phosphatase isoenzymes on agarose gel by serum processing with lectin. Results: During hospital treatment, increased catalytic activity of alkaline phosphatase was recorded (4109 U/L on day 1 and 2156 U/L on day 6). On control examination on day 27 of hospital admission, the value decreased to 505 U/L. Electrophoretic separation of alkaline phosphatase isoenzymes demonstrated a band faster than the hepatic-osseous isoenzyme, a fast anodal form. Conclusion: A marked increase in the alkaline phosphatase catalytic activity with typical electrophoretic isoenzyme pattern persisting for several weeks points to transient hyperphosphatasemia. Additional unnecessary diagnostic work-up can be obviated by timely recognition of the phenomenon.

Uvod: Opisuje se slučaj prolazne hiperfosfatazemije u 21-mjesečnog dječaka s ponavljajućom sipnjom tijekom akutnog respiracijskog infekta. Materijali i metode: Određivanje katalitičke aktivnosti alkalne fosfataze provedeno je preporučenom fotometrijskom metodom, a elektroforetsko razdvajanje izoenzima alkalne fosfataze na agaroznom gelu uz obradu seruma lektinom. Rezultati: Tijekom bolničkog liječenja dijete je imalo povećanu katalitičku aktivnost alkalne fosfataze: prvog dana 4109 U/L, šestog dana 2156 U/L. Pri kontrolnom pregledu 27. dana od prijma u bolnicu aktivnost se smanjila na 505 U/L. Elektroforetskim razdvajanjem izoenzima alkalne fosfataze dokazana je elektroforetska vrpca brža od jetreno-koštanog izoenzima, tzv. brza anodna vrpca. Zaključak: Pojava izrazito povećane katalitičke aktivnosti alkalne fosfataze uz tipičnu elektroforetsku razdiobu izoenzima u trajanju od nekoliko tjedana ukazuje na prolaznu hiperfosfatazemiju. Pravodobnim prepoznavanjem izbjegava se daljnja nepotrebna dijagnostička obrada., Introduction: A case of transient hyperphosphatasemia in a 21-month-old boy diagnosed with recurrent wheezing during acute respiratory infection is described. Materials and methods: Determination of alkaline phosphatase catalytic activity was performed by the recommended photometric method, and elec-trophoretic separation of alkaline phosphatase isoenzymes on agarose gel by serum processing with lectin. Results: During hospital treatment, increased catalytic activity of alkaline phosphatase was recorded (4109 U/L on day 1 and 2156 U/L on day 6). On control examination on day 27 of hospital admission, the value decreased to 505 U/L. Electrophoretic separation of alkaline phosphatase isoenzymes demonstrated a band faster than the hepatic-osseous isoenzyme, a fast anodal form. Conclusion: A marked increase in the alkaline phosphatase catalytic activity with typical electrophoretic isoenzyme pattern persisting for several weeks points to transient hyperphosphatasemia. Additional unnecessary diagnostic work-up can be obviated by timely recognition of the phenomenon.

Cilj: Prikazati elektroforetsku sliku izoenzima ALP u serumu dojenčadi i djece koja su u tijeku akutne respiracijske bolesti imala povećanu ukupnu katalitičku aktivnost ALP. Ispitanici i metode: Prikazani su rezultati u 21 djeteta (od toga 17 dojenčadi), 8 djevojčica i 13 dječaka, u dobi od 2 mjeseca do 8 godina, hospitaliziranih zbog respiracijskih bolesti. U serumu djece određena je ukupna katalitička aktivnost ALP i provedeno elektroforetsko razdvajanje izoenzima ALP. Rezultati: Osmoro djece (38,1%) je u tijeku hospitalizacije imalo povećanu ukupnu katalitičku aktivnost ALP (raspon od 528 do 5622 U/L). Tipičnu sliku benigne prolazne hiperfosfatazemije, koja podrazumijeva pojavu brze anodne frakcije (brža od jetrene frakcije) i tzv. katodne frakcije (brža od koštane frakcije), imalo je petero djece. Izoenzim nalik placentalnom izoenzimu izdvojio se u dvoje djece. Izraženu koštanu frakciju, ali i frakciju nalik placentalnoj imalo je dijete s rahitisom. Predjetreni oblik ALP otkriven je kod dvoje djece, a jetreni izoenzim u jednog djeteta. Zaključak: Akutna respiracijska bolest u dojenčadi i djece može imati za posljedicu prolazno povećanje katalitičke aktivnosti ALP odnosno pojavu različitih izoenzimskih vrpca, primjerice brze anodne i tzv. katodne frakcije (kod prolazne hiperfosfatazemije), predjetrene frakcije i frakcije koja odgovara placentalnom izoenzimu. Prolazna hiperfosfatazemija se dokazuje nakon što se ukupna aktivnost ALP značajno smanji odnosno vrati u referentne raspone unutar 3-4 mjeseca. U tom slučaju daljnje analize nisu potrebne. Aim: To present the electrophoretic pattern of alkaline phosphatase (ALP) isoenzymes in serum of infants and children exhibiting increased total ALP catalytic activity in the course of acute respiratory disease. Subjects and methods: Results obtained in 21 children (17 of them infants), including 13 male and eight female children aged 2 months to 8 years, hospitalized for respiratory diseases are presented. Total ALP catalytic activity was determined and electrophoretic separation of ALP isoenzymes was performed in children's sera. Results: Increased total ALP catalytic activity (range, 528-5622 U/L) during hospital stay was recorded in eight (38.1%) children. A typical picture of be-nign transient hyperphosphatasemia (TH), which implies the occurrence of fast anodal fraction (faster than hepatic fraction) and near-cathode fraction (faster than bone fraction), was recorded in five children. The placental-like isoenzyme was detected in two children. Expression of bone fraction and placental-like fraction was recorded in a rachitic child. Prehepatic ALP was expressed in two children, and hepatic ALP isoenzyme in one child. Conclusion: Acute respiratory disease in infants and children may entail transient increase in the ALP catalytic activity with the occurrence of various isoenzyme bands such as fast anodal and near-cathode fraction (in TH), prehepatic fraction and placental-like fraction. TH is verified when total ALP activity has decreased and returned to reference intervals. In this case, no additional testing is required.

Cilj: Prikazati elektroforetsku sliku izoenzima ALP u serumu dojenčadi i djece koja su u tijeku akutne respiracijske bolesti imala povećanu ukupnu katalitičku aktivnost ALP. Ispitanici i metode: Prikazani su rezultati u 21 djeteta (od toga 17 dojenčadi), 8 djevojčica i 13 dječaka, u dobi od 2 mjeseca do 8 godina, hospitaliziranih zbog respiracijskih bolesti. U serumu djece određena je ukupna katalitička aktivnost ALP i provedeno elektroforetsko razdvajanje izoenzima ALP. Rezultati: Osmoro djece (38,1%) je u tijeku hospitalizacije imalo povećanu ukupnu katalitičku aktivnost ALP (raspon od 528 do 5622 U/L). Tipičnu sliku benigne prolazne hiperfosfatazemije, koja podrazumijeva pojavu brze anodne frakcije (brža od jetrene frakcije) i tzv. katodne frakcije (brža od koštane frakcije), imalo je petero djece. Izoenzim nalik placentalnom izoenzimu izdvojio se u dvoje djece. Izraženu koštanu frakciju, ali i frakciju nalik placentalnoj imalo je dijete s rahitisom. Predjetreni oblik ALP otkriven je kod dvoje djece, a jetreni izoenzim u jednog djeteta. Zaključak: Akutna respiracijska bolest u dojenčadi i djece može imati za posljedicu prolazno povećanje katalitičke aktivnosti ALP odnosno pojavu različitih izoenzimskih vrpca, primjerice brze anodne i tzv. katodne frakcije (kod prolazne hiperfosfatazemije), predjetrene frakcije i frakcije koja odgovara placentalnom izoenzimu. Prolazna hiperfosfatazemija se dokazuje nakon što se ukupna aktivnost ALP značajno smanji odnosno vrati u referentne raspone unutar 3-4 mjeseca. U tom slučaju daljnje analize nisu potrebne., Aim: To present the electrophoretic pattern of alkaline phosphatase (ALP) isoenzymes in serum of infants and children exhibiting increased total ALP catalytic activity in the course of acute respiratory disease. Subjects and methods: Results obtained in 21 children (17 of them infants), including 13 male and eight female children aged 2 months to 8 years, hospitalized for respiratory diseases are presented. Total ALP catalytic activity was determined and electrophoretic separation of ALP isoenzymes was performed in children's sera. Results: Increased total ALP catalytic activity (range, 528-5622 U/L) during hospital stay was recorded in eight (38.1%) children. A typical picture of be-nign transient hyperphosphatasemia (TH), which implies the occurrence of fast anodal fraction (faster than hepatic fraction) and near-cathode fraction (faster than bone fraction), was recorded in five children. The placental-like isoenzyme was detected in two children. Expression of bone fraction and placental-like fraction was recorded in a rachitic child. Prehepatic ALP was expressed in two children, and hepatic ALP isoenzyme in one child. Conclusion: Acute respiratory disease in infants and children may entail transient increase in the ALP catalytic activity with the occurrence of various isoenzyme bands such as fast anodal and near-cathode fraction (in TH), prehepatic fraction and placental-like fraction. TH is verified when total ALP activity has decreased and returned to reference intervals. In this case, no additional testing is required.

An 11-month-old boy with a relapsing dancing eye syndrome associated with elevation of serum alkaline phosphatase, lactate dehydrogenase, and aminotransferase activities is reported. During two clinical episodes the serum alkaline phosphatase activity increased up to four times the upper reference limit, remained elevated for a few weeks and normalized gradually in parallel with clinical improvement under steroid therapy. We found no evidence of liver or bone pathology nor of a neural crest tumor. The association between dancing eye syndrome and hyperphosphatasemia has not yet been described. The beneficial effect of the steroid therapy strengthens the hypothesis of an autoimmune origin.

The authors report a case of unsuspected fetal storage disorder initially diagnosed by placental examination performed because of a transient ascites at 28 weeks of gestation. At birth mild dysmorphic features and gradual neurological deterioration were observed. Highly elevated alkaline phosphatase levels were repeatedly noticed. Deficiency of beta-galactosidase was documented confirming GM1 gangliosidosis. Previous reports described the placental pathology after positive prenatal diagnoses of lysosomal diseases. In the present case, the postnatal diagnosis was made in view of the placental pathologic findings. Our observation indicates the need for thorough investigations in hydrops fetalis, in search for metabolic diseases.

Dental hard tissue abnormalities have never been described as part of the symptoms associated with hyperphosphatasemia. Fourteen teeth obtained from a young man, who had a mild form of hyperphosphatasemia, were analyzed using scanning electron microscopy (SEM), secondary ion mass spectroscopy (SIMS), X-ray diffraction (XRD), and infrared (IR) spectroscopy. SEM revealed a thin enamel, presenting a prismatic structure with many pits, and atypical cementum and dentin showing numerous resorption areas. The X-ray diffractograms revealed poorly crystallinehydroxyapatite associated with α-tricalcium phosphate and magnesium hydroxide phases. SIMS data showed high Ca concentrations: 40.5 weight % {wt%; standard deviation (SD) = 0.13) and 42.5 wt% (SD = 1.03) in enamel and dentin respectively, and high Ca/P weight ratios: 2.28 in the enamel, 2.65 in the dentin. The lack of crystallinity may be linked to the high content of proteins and magnesium adsorbed onto apatite. This study demonstrates the need for thorough radiographical and biological investigations for skeletal abnormalities, even in the absence of systemic symptoms, when generalized dental abnormalities of both enamel and dentin are observed.

Not available.