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Before the diagnosis of idiopathic pulmonary hemosiderosis (IPH), unexplained or puzzling anemia may precede and delay in the diagnosis of pediatric IPH is common. A 5.8 years old female child initiated with iron-refractory iron deficiency anemia-like iron deficiency and hemolytic anemia and at 6.8 years of age IPH was materialized, when the patient showed the triad signs of IPH with hemosiderin-laden alveolar macrophages in gastric aspirate. Although time to the diagnosis was previously reported to be ranged from 16 to 30 months, in our case it took 12 months from the initial anemia to IPH diagnosis.

Glanzmann's thrombasthenia is a rare inherited autosomal recessive bleeding disorder caused by platelet dysfunction. Adolescent girls with Glanzmann's thrombasthenia may experience problematic heavy menstrual bleeding beginning at menarche; this can be difficult to manage. Here, we report the case of an 11-year-old girl with Glanzmann's thrombasthenia who presented with heavy menstrual bleeding at menarche, which was difficult to control. The vaginal bleeding persisted and did not respond to a treatment with packed red blood cells (16 U total), platelet concentrates (70 U total), or administration (>50 doses) of recombinant activated factor VII (rFVIIa). Eventually, a combination of rFVIIa and hormonal therapy (a combined oral contraceptive pill) was introduced. The bleeding stopped at nearly 1 month from onset of menarche. Thereafter, the condition was managed by monthly subcutaneous administration of a GnRH agonist. Management of severe menorrhagia in adolescent patients with Glanzmann's thrombasthenia requires close collaboration with gynecologists or adolescent medicine specialists. More clinical studies are required to identify an effective combination of rFVIIa and hormonal therapy for this condition.

We report here a 7-year-old Afghan girl with autoimmune hepatitis (AIH). Because she showed hepatic dysfunction with markedly high serum immunoglobulin G (IgG) (5,234 mg/dL) and eosinophilia (absolute eosinophil counts: 9,547/µL) at onset, we had difficulty in diagnosing this case by differentiating from various possible diseases. After wedge biopsy of the liver which histologically showed chronic hepatitis pattern as well as high titers (1:640) of anti-nuclear antibody with other negative autoantibodies, the patient was eventually diagnosed as AIH type 1 and successfully managed with a combination of prednisolone (PSL), azathioprine and ursodeoxycholic acid (UDCA), followed by a maintenance therapy with PSL, cyclosporine and UDCA. Int J Clin Pediatr. 2020;9(2):50-54 doi: https://doi.org/10.14740/ijcp372

Background Pulmonary nodules associated with Epstein-Barr virus (EBV)-related atypical infectious mononucleosis have rarely been described. Observations A 12-year-old Japanese boy, upon admission, revealed multiple small round nodules (a total of 7 nodules in 4 to 8 mm size) in the lungs on computed tomography. The hemorrhagic pharyngeal tonsils with hot signals on 18F-fluorodeoxyglucose-positron emission tomography-computed tomography were biopsied revealing the presence of EBV-encoded small nuclear RNA (EBER)-positive cells; however, no lymphoma was noted. The patient was diagnosed as having atypical EBV-infectious mononucleosis associated with primary EBV infection. Pulmonary nodules markedly reduced in numbers and sizes spontaneously over a 2-year period. Conclusions Differential diagnosis of pulmonary nodules in childhood should include atypical EBV infection.

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) develops in association with systemic as well as central nervous system (CNS) viral or bacterial infections. AESD is most often noted with influenza or human herpesvirus 6 infection in previously healthy infants. However, AESD has also been reported in an infant with developmental retardation and in a mentally and motor-disabled adolescent. Here, we report the case of a 4-year-old female with significant development delay due to spinal muscular atrophy, who developed AESD during Streptococcus sanguinis sepsis with no apparent CNS infection. Although the patient had extremely high serum procalcitonin (45.84 ng/mL, reference, &lt, 0.4) on admission indicating a poor prognosis, she was successfully managed for sepsis and AESD.

We report here a sporadic case of Epstein syndrome, one of the MYH9 disorders. A Japanese boy was first noted to have thrombocytopenia at 3 years of age. Blood smear showed giant platelets but no Dohle-like bodies in the neutrophils. He had no family history of thrombocytopenia, hearing loss, and/or renal failure. Thrombocytopenia took a chronic course and platelet count fluctuated in the range 18 000-46 000/μL, not responding to i.v. immunoglobulin or prednisolone treatment. The patient had episodes of gross nasal bleeding at 7 and 18 years of age. Mild hearing loss was suspected at 6, and proteinuria was first noted at 14 years of age. At the development of renal failure at 24 years of age, he was identified to have de novo R702H MYH9 mutation. This case illustrates the importance of suspecting MYH9 disorder even in cases of chronic macrothrombocytopenia without family history.

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) develops in association with systemic as well as central nervous system (CNS) viral or bacterial infections. AESD is most often noted with influenza or human herpesvirus 6 infection in previously healthy infants. However, AESD has also been reported in an infant with developmental retardation and in a mentally and motor-disabled adolescent. Here, we report the case of a 4- year-old female with significant development delay due to spinal muscular atrophy, who developed AESD during Streptococcus sanguinis sepsis with no apparent CNS infection. Although the patient had extremely high serum procalcitonin (45.84 ng/mL, reference

Identical twin brothers developed mild encephalopathy at the age of 7.0 and 9.7 years (Patient 1) and 10.7 years (Patient 2). Patient 1 had influenza A at the time of his second episode, but triggering agents were not evident at the first episode. The triggering agents in Patient 2 were unclear. The neurological features of both patients included transient facial numbness, left arm paresis, dysarthria, and gait disturbance. Diffusion-weighted images from magnetic resonance imaging showed high signal levels at the splenium of corpus callosum and in the bilateral cerebral deep white matter. These results are characteristic of mild encephalitis/encephalopathy with a reversible isolated splenium of corpus callosum lesion. All three episodes were treated with a methylprednisolone pulse. Acyclovir was also administered to Patient 2 and to Patient 1 during his first episode. Patient 1 received an anti-influenza agent and intravenous immunoglobulin during his second episode. Both patients recovered completely without sequelae. Genetic factors, which may predispose identical twins to develop encephalopathy, are discussed.

Sweet’s syndrome, characterized by fever and a painful erythematous rash with a dermal neutrophilic infiltrate, develops primarily due to paraneoplastic phenomena in adults. Sweet’s syndrome is very rare in neonates. We report a Japanese female neonate (age &lt, 2 months), who developed Sweet’s syndrome with episodes of perineal infection in association with congenital rectovestibular fistula with normal anus. Sweet’s syndrome was diagnosed basing on clinical features and histopathology of biopsied skin tissues. Rectovestibular fistula was confirmed after the signs of inflammation subsided and the rash disappeared. In the literature, we found another case of neonatal Sweet’s syndrome associated with rectovestibular fistula in a Japanese female neonate. The perineal region should be screened for anomalies following diagnosis of Sweet’s syndrome in neonates.

We report here a sporadic case of Epstein syndrome, one of the MYH9 disorders. A Japanese boy was first noted to have thrombocytopenia at 3 years of age. Blood smear showed giant platelets but no Döhle-like bodies in the neutrophils. He had no family history of thrombocytopenia, hearing loss, and/or renal failure. Thrombocytopenia took a chronic course and platelet count fluctuated in the range 18 000-46 000/μL, not responding to i.v. immunoglobulin or prednisolone treatment. The patient had episodes of gross nasal bleeding at 7 and 18 years of age. Mild hearing loss was suspected at 6, and proteinuria was first noted at 14 years of age. At the development of renal failure at 24 years of age, he was identified to have de novo R702H MYH9 mutation. This case illustrates the importance of suspecting MYH9 disorder even in cases of chronic macrothrombocytopenia without family history.

“R642H/R642W” in the title of the paper “Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene” is wrong and should read “R642H/R642C” so that the title will read “Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642C Mutation in the SLC12A3 Gene.” The sentence “in the other gene, it had become a tryptophan and was inherited from the mother;” is corrected as “in the other gene, it had become a cysteine and was inherited from the mother;” and the sentence “thus the patient had the R642H/R642W mutation (Figure 2).” is corrected as “thus the patient had the R642H/R642C mutation (Figure 2).” There is an error in “Figure 2” and it is replaced with a corrected Figure 2. There is an error in the entire legend of “Figure 2” and it is corrected as mentioned herein. The sentence “However, our patient had different mutations in codon 642, namely, R642H inherited from his father and R642W inherited from his mother, thus yielding a compound heterogeneous mutation.” is corrected as “However, our patient had different mutations in codon 642, namely, R642H inherited from his father and R642C inherited from his mother, thus yielding a compound heterogeneous mutation.” At the end, we would like to include an Acknowledgement section as follows: The authors thank Dr. Andrew Phillips, Research Associate, Human Gene Mutation Database Institute of Medical Genetics, Cardiff University, UK, for the reevaluation of sequence analysis.