Henoch-Schönlein purpura (HSP) is the most common vasculitis in childhood and is clinically characterised by purpura, abdominal pain, arthritis and renal involvement. Scarcely, some patients with HSP may not always show visible rash and can present with insidious abdominal symptoms. We present two patients: an 8-year-old boy who was initially considered as having infectious diarrhoea and mesenteric lymphadenitis, then intussusception, appendicitis, appendicopathia oxyuriaca and post-operative ileus. However, he was finally diagnosed with HSP, as the typical rash appeared 10 days after onset of abdominal symptoms. The second patient was a 5-year-old boy with recurrent vomiting, abdominal pain and mild dehydration, where swollen joints and typical rash appeared on day 3. Both patients were successfully managed with orally administered corticosteroids. The patients did not have any further consequences of HSP.
- Klíčová slova
- Abdominal pain, Diarrhoea, Henoch–Schönlein purpura, Oxyuriasis, Vomiting,
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
We present a 4-year-old girl with persistent anterior fontanelle and narrow sloping shoulders. The X-ray imaging revealed widely open anterior fontanelle, supernumerary teeth, and absence of clavicles. Therefore, the diagnosis was cleidocranial dysplasia, which is a rare autosomal dominant skeletal disease, caused by the mutation in the gene on 6p21 encoding transcription factor CBFA1 (runt-related transcription factor 2-RUNX2). The girl remains under close surveilance, her anterior fontanelle closed spontaneously at the age of 9 years.
- Klíčová slova
- Clavicle, Cleidocranial dysplasia, Fontanelle, Ossification, Skull,
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
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.
- Klíčová slova
- Calcium, Hypocalcemia, Neonate, Parathyroid hormone, Pseudohypoparathyroidism,
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Burosumab (KRN23) is a fully human monoclonal IgG1 antibody that binds excess fibroblast growth factor 23 (FGF23) and has been successfully tested in clinical trials in children with X-linked hypophosphatemic rickets. A report enclosed in this letter gives a brief review of current knowledge on burosumab therapy.
- Klíčová slova
- Burosumab, Hypophosphatemic rickets, KRN23.,
- Publikační typ
- časopisecké články MeSH
INTRODUCTION: Gitelman syndrome (GS) is a very rare autosomal recessive tubulopathy due to loss-of-function or mutation in solute carrier family12, member 3 gene (SLC12A3 gene) encoding thiazide-sensitive NaCl co-transporter in the distal convoluted tubule, leading to hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria and low-to-normal blood pressure. Clinical signs are mostly secondary to chronic hypokalemia and include dizziness, fatigue, constipation and weakness. Patients can also present with muscle cramps, tetany, fatigue and convulsions due to severe metabolic alkalosis or hypomagnesemia. Manifestations of GS are rarely apparent before the age of five, and the syndrome is usually diagnosed during adolescence or adulthood. Here we describe a case of GS presenting in infancy with hypokalemia and psychomotor retardation. CASE REPORT: We present an 18-month-old boy who presented with psychomotor retardation and failure to thrive. Investigations revealed hypokalemia at 2.7 mmol/L, metabolic alkalosis, hypocalciuria and normal serum magnesium level. The diagnoses of Barter syndrome (BS) and Gitelman syndrome (GS) were considered. Genetic studies confirmed the diagnosis of GS and three different mutations of in SLC12A3 gene were detected. Two mutations (c.2576T>C and c.2929C>Ty) were considered as causal ones, with the patient´s parents being the heterozygous carriers. Oral potassium supplementation resulted in normalisation of the hypokalemia and psychomotor improvement. CONCLUSION: We report a rare case of psychomotor retardation occurring at an early age in genetically confirmed GS. In spite of being a rare disorder, GS has to be considered in children with developmental delay and muscle weakness. With adequate treatment, GS patients have an excellent prognosis.
- MeSH
- chlorid draselný terapeutické užití MeSH
- diuretika terapeutické užití MeSH
- Gitelmanův syndrom komplikace farmakoterapie genetika MeSH
- kojenec MeSH
- lidé MeSH
- neprospívání etiologie MeSH
- potravní doplňky MeSH
- psychomotorické poruchy farmakoterapie etiologie MeSH
- receptory léků genetika MeSH
- rodina nosičů rozpuštěných látek 12, člen 3 MeSH
- spironolakton terapeutické užití MeSH
- symportéry genetika MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- chlorid draselný MeSH
- diuretika MeSH
- receptory léků MeSH
- rodina nosičů rozpuštěných látek 12, člen 3 MeSH
- SLC12A3 protein, human MeSH Prohlížeč
- spironolakton MeSH
- symportéry MeSH
