Transient Hyperphosphatasemia in a Child with Autism Spectrum Disorder.

INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and the presence of restricted interests and repetitive behaviors. Transient hyperphosphatasemia of infancy and early childhood (THI) is a benign laboratory disorder characterized by transiently extremely elevated activity of serum alkaline phosphatase (S-ALP). CASE REPORT: We present a 21-month-old girl with a right leg limp, most probably due to reactive arthritis after febrile viral infection, and deterioration of psychomotor development with concomitant transient elevation of S-ALP (61.74 µkat/L; normal 2.36-7.68 µkat/L). Normal values of serum creatinine, aspartate-aminotransferase, alanin-aminotransferase, calcium, phosphate, together with normal wrist X-ray ruled out rickets or other bone or hepatic cause of high S-ALP. The S-ALP gradually decreased within 3 months, thus fulfilling the THI criteria. Screening for inborn errors of metabolism was negative and meticulous neurologic, psychologic and psychiatric assessment pointed to the diagnosis of autism spectrum disorder (ASD). There was no causal relationship between THI and ASD, as high S-ALP was an accidental and transient finding within the routine laboratory assessment. However, when THI occurs in a child with an onset of a new disorder, or with a pre-existing bone or liver disease, it might seriously concern the physician. CONCLUSION: Children with THI should be spared from extensive evaluations and unnecessary blood draws.

Calcemia and Inflammatory Markers in Early-Onset Neonatal Infection.

INTRODUCTION: Ionised hypocalcemia (S-Ca2+) has been repeatedly observed in neonates with sepsis. Our aim was to evaluate total calcemia (S-Ca) and its relationship to laboratory markers of infection. METHODS: We retrospectively evaluated total calcemia (S-Ca) and its relationship to laboratory markers of sepsis/infection (serum levels of C-reactive protein - S-CRP and procalcitonin - S-PCT) in 29 full-term neonates with early-onset neonatal infection hospitalized at our neonatology ward between 2012 and 2016. The control group consisted of 705 neonates without infection. RESULTS: In neonates with early-onset infection , the S-Ca on day 1, 2 and 3 was significantly lower (p < 0.0001; p < 0.0001; p = 0.05 versus controls) same as the pooled S-Ca (p < 0.0001 versus controls). There was a weak negative correlation between pooled S-Ca and S-PCT, or pooled S-Ca and S-CRP (r = -0.22, p = 0.06; r = -0.19, p = 0.09). CONCLUSION: S-Ca was decreased in neonates with early-onset infection and did show a slight tendency to inverse correlation with S-CRP and S-PCT. Pediatricians must be aware of the fact that a drop in total S-Ca should alert their attention to the risk of neonatal infection, and, likewise, that the children with neonatal infection are at a higher risk of hypocalcemia with all its consequences.

Three cases of transient neonatal pseudohypoparathyroidism.

Neonatal hypocalcemia is defined as serum calcium (S-Ca) < 2.0 mmol/l in full-term newborns and <1.75 mmol/l in preterm newborns. Neonatal hypocalcemia is either early onset (<3 days of age) or late onset (>3 days of age). Newborns with hypocalcemia are often asymptomatic but may present with hypotonia, apnea, poor feeding, jitteriness, seizures, and cardiac failure. Signs of hypocalcemia rarely occur unless S-Ca drops below 1.75 mmol/l. Neonatal hypocalcemia can be a result of hypoparathyroidism (transient or primary), increased serum calcitonin, sepsis, asphyxia, hepatopathy, hypomagnesemia, high phosphate load, transient hypoparathyroidism, and, rarely, transient neonatal pseudohypoparathyroidism [transient resistance to biological actions of parathyroid hormone (PTH)]. We present the case of three boys (two with gestational age 39 weeks, one 36 weeks; none of them with either asphyxia or sepsis) with mild hypotonia, where S-Ca in the range of 1.67-1.9 mmol/l was detected within the first 3 days of life, together with hyperphosphatemia [serum phosphate (P) 2.5-2.6 mmol/l], normomagnesemia [serum magnesium (S-Mg) 0.77-0.88 mmol/l], normal alkaline phosphatase (ALP) activity (2.8-4.5 µkat/l), and high serum PTH (40-51 pg/ml; normal = 5-28). In spite of the gradual increase of S-Ca, the elevated serum PTH persisted beyond days 3, 4, and 6 in all three boys, together with normal or low-to-normal S-Ca, high or normal-to-high serum P, and no increases in serum ALP. The mothers S-Ca, P, Mg, ALP, and PTH levels were within normal reference ranges. With regard to laboratory results, the diagnosis of transient neonatal pseudohypoparathyroidism (due to immaturity of PTH-receptors) is highly probable in these three neonates.