Survival of a very low-birthweight infant with Potter sequence on long-term hemodialysis.

Recent advances in neonatal cardiorespiratory management and neonatal renal replacement therapy have led to occasional reports of favorable short-term and long-term outcomes for Potter sequence, once thought to be fatal. The present patient was a girl born at a gestational age of 34 weeks 4 days with a birthweight of 1398 g. She was diagnosed with Potter sequence complicated by pulmonary hypoplasia due to left renal agenesis and small right kidney. Hemodialysis was started because anuria persisted even after persistent pulmonary hypertension receded and cardiorespiratory status improved. Peritoneal dialysis during the clinical course failed to achieve stability because of pericatheter leakage and frequent obstruction of the peritoneal dialysis catheter; in the meantime, hemodialysis was also performed. Once bodyweight passed 3.5 kg, peritoneal dialysis became more feasible with stability; the patient was discharged at 9 months and at the time of writing was on peritoneal dialysis at home, and renal transplantation was planned.

Clinical Course of a Rare Epstein-Barr Virus-Associated Smooth Muscle Tumor and Its Genomic Analysis.

Epstein-Barr virus (EBV) can rarely induce smooth muscle tumors (SMTs). A 20-year-old female patient underwent kidney transplantation for renal failure. Since then, she has been treated with immunosuppressants, including a calcineurin inhibitor, tacrolimus, and prednisolone, owing to the immunological rejection. Three years later, she developed large liver tumors (diameter >5 cm) and multiple small lung tumors that were identified as EBV-SMTs based on the results of liver biopsy/histopathology. No intervention was performed except for the addition of a mammalian target of the rapamycin inhibitor, everolimus, which inhibits both immune reaction and SMT growth. Finally, after 8 years, the transplanted kidney became nonfunctional, and immunosuppressant administration became unnecessary as urinary dialysis was started. Under these circumstances, SMT growth was observed despite the absence of immunosuppressant administration. Three months after the cessation of the immunosuppressants, EBV-SMTs in the liver and lungs shrank slightly. To the best of our knowledge, this is the first report on the genomic profile of this rare tumor. The clinical course of our patient indicates that EBV can induce SMTs, and immunological suppression of EBV may inhibit the activity of these tumors.

Survival of an infant with massive fetomaternal hemorrhage with a neonatal hemoglobin concentration of 1.2 g/dL without evident neurodevelopmental sequelae.

Fetomaternal hemorrhage is referred to as the passage of fetal blood into the maternal circulation. Massive hemorrhage can cause severe fetal anemia, affecting fetal and neonatal outcomes. A neonatal hemoglobin concentration (Hb), which is reportedly a significant prognostic factor, of <5.0 g/dL has been reported to carry a high risk of poor outcomes (death and major morbidity). We present a case of massive fetomaternal hemorrhage with the lowest value of neonatal Hb ever previously reported in a survivor, who subsequently met all the developmental milestones at the corrected age of 18 months. A male infant born at 27 weeks gestation, weighing 998 g, presented with severe anemia with an Hb of 1.2 g/dL and an HbF level in the mother's blood of 2.4%, which led to a diagnosis of fetomaternal hemorrhage. Since there were no findings of hypovolemia, exchange transfusion was performed for prompt correction of the severe anemia without precipitating volume overload. The present case suggested that exchange transfusion might promptly correct anemia in patients with fetomaternal hemorrhage without hypovolemia without causing volume overload.

Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations.

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder of fatty acid beta oxidation that is caused by a defect in ACADVL, which encodes VLCAD. The clinical presentation of VLCAD deficiency is heterogeneous, and either a delayed diagnosis or a misdiagnosis may sometimes occur. We herein describe a difficult-to-diagnose case of the muscle form of adult-onset VLCAD deficiency with compound heterozygous ACADVL mutations including c.790A>G (p.K264E) and c.1246G>A (p.A416T).

Dietary chloride deficiency due to new liquid nutritional products.

BACKGROUND: In infants the ingestion of chloride-deficient formulas was previously reported to cause hypochloremic metabolic alkalosis and hypokalemia, which is referred to as dietary chloride deficiency syndrome. Since that time, however, dietary chloride deficiency has not been commonly recognized. The aim of the present study was to evaluate the clinical features of dietary chloride deficiency syndrome caused by the ingestion of newly marketed liquid nutritional products. METHODS: This was a retrospective chart review of 59 patients with severe motor and intellectual disability (SMID); they had been given newly marketed liquid nutritional products that were later found to be chloride deficient. RESULTS: Eight-nine weeks after changing to the new liquid nutritional products, clinical symptoms and laboratory abnormalities were noted. The main clinical finding was weight loss; 22% of subjects lost >5% of their bodyweight. A small number of the subjects had a mild bowel movement disorder; diarrhea and constipation were found in six and three patients, respectively. Hyponatremia, hypokalemia, and hypochloremia occurred in 33.9%, 44.5%, and 50.8%, respectively. CONCLUSIONS: Chloride-deficient liquid nutritional products can cause weight loss, hypochloremic metabolic alkalosis, and hypokalemia in persons with severe motor and intellectual disability.

The evaluation of the efficacy and safety of non-invasive neurally adjusted ventilatory assist in combination with INtubation-SURfactant-Extubation technique for infants at 28 to 33 weeks of gestation with respiratory distress syndrome.

OBJECTIVES: The aim of this study is to evaluate the efficacy and safety of non-invasive neurally adjusted ventilatory assist used after INtubation-SURfactant-Extubation in preterm infants with respiratory distress syndrome. METHODS: We conducted a prospective observational study that included 15 inborn preterm infants at 28 (0/7) to 33 (6/7) weeks of gestation with respiratory distress syndrome in the period from April 2017 to October 2018. After INtubation-SURfactant-Extubation, infants underwent non-invasive neurally adjusted ventilatory assist. INtubation-SURfactant-Extubation failure was defined as follows: fraction of inspired oxygen requirement >0.4, respiratory acidosis, and severe apnea within 5 days after surfactant administration. RESULTS: Two of the 15 (13.3%) infants showed INtubation-SURfactant-Extubation failure and required mechanical ventilation. No infants experienced any major complications such as pneumothorax, patent ductus arteriosus ligation, severe intraventricular hemorrhage, periventricular leukomalacia, retinopathy of prematurity, or death. CONCLUSION: The rate of INtubation-SURfactant-Extubation failure when non-invasive neurally adjusted ventilatory assist was used after INtubation-SURfactant-Extubation for preterm infants with respiratory distress syndrome was 13.3%. Non-invasive neurally adjusted ventilatory assist can be safely performed without severe complications for preterm infants soon after birth.

Successful management of acquired left bronchial stenosis caused by massive atelectasis.

Acquired bronchial stenosis is rare in children, usually caused by infection or traumatic granuloma due to chronic intubation. A case of severe acquired left bronchial stenosis successfully treated by conservative management for gastroesophageal reflux and atelectasis is reported. A male infant born at 24 weeks' gestation, weighing 461 g, presented with massive atelectasis of the left lower lobe and severe left bronchial stenosis, based on chest computed tomography performed for the evaluation of respiratory failure at the age of 8 months. He responded well to the placement of a duodenal tube for gastroesophageal reflux and chest physiotherapy, reducing the symptoms of atelectasis and successfully managing the left bronchial stenosis. Acquired bronchial stenosis could be caused by bronchial shift due to atelectasis, and it can be cured by conservative management. In cases of acquired bronchial stenosis with massive atelectasis, it is important to consider atelectasis as a potential cause of the acquired bronchial stenosis.

Coexistence of T-cell lymphoblastic lymphoma and myelodysplastic syndrome in a child.

A 10-year-old girl presented with T-cell lymphoblastic lymphoma of the mediastinum coexisting with myelodysplastic syndrome. Bone marrow examination showed trilineage dysplasia with no evidence of lymphoma cells. Intensive chemotherapy led to a marked reduction in the mediastinal tumor, but no improvement in bone marrow findings. Unrelated cord blood transplantation was performed, resulting in completely chimeric bone marrow cells. A possible explanation for the simultaneous presentation of T-cell lymphoblastic lymphoma and myelodysplastic syndrome is that transformation occurs in pluripotent stem cells differentiating into myeloid and lymphoid cells.

[Effective Microvascular Decompression of the Trigeminal Nerve in a Patient with SUNCT].

A 43-year-old man presented with severe, saw-tooth pattern pain around the right eye that started with conjunctival injection, lacrimation and nasal discharge, lasting for about 1 hour, 4 months after the initial onset of lancinating pain in the same area. The patient was diagnosed with SUNCT (short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing) according to the International Classification of Headache Disorders 3rd edition (beta version). The symptoms improved in 2 months but recurred 6 months later. He developed a toxic eruption after receiving a variety of antiepileptic agents including lamotrigine, which suggested refractory SUNCT. Head magnetic resonance imaging (MRI) showed neurovascular compression (NVC) involving the right trigeminal nerve. Microvascular decompression (MVD) was performed, and the pain was relieved postoperatively. MVD should be considered when treating refractory SUNCT because NVC may be involved in some cases. (Received February 29, 2016; Accepted April 4, 2016; Published August 1, 2016).

A case of primary biliary cirrhosis accompanied with fibrinogen storage disease.

We report the first case of primary biliary cirrhosis (PBC) accompanied by fibrinogen storage disease (FSD). A 50-year-old Japanese woman had been treated for numbness of her right-side extremities for 5 years. Mildly elevated serum levels of alkaline phosphatase and gamma-glutamyl transferase were detected. The titers of both anti-mitochondrial (x 320) and anti-mitochondrial M2 (x 84) antibodies were elevated. The biopsied liver specimen showed mononuclear cell infiltrate densely encircling the bile ducts, poorly developed epithelioid cell granuloma, and loss of integrity of bile duct organization, which permitted a diagnosis of stage I PBC according to Scheuer's histologic classification. In addition, round to oval, eosinophilic, homogenous intracytoplasmic inclusions, several microm in average size, with a surrounding halo were found in the vast majority of hepatocytes. These inclusions were negative for the periodic acid-Schiff reaction. In immunohistochemistry, the inclusions were positive for fibrinogen and complement C3c, but not for HBs antigen and alpha1-antitrypsin. These findings were identical to FSD. To investigate the mechanism(s) of abnormal fibrinogen storage, immunostaining for heat shock protein 70 and ubiquitin was performed. The former was detected in all intracytoplasmic inclusions, whereas the latter was detected in only some inclusions, suggesting a partial loss of ubiquitin expression.

[Successful treatment of hemicrania continua with a combination of low-dose indomethacin and pregabalin: a case report].

A 51-year-old man complained of continuous pain lasting about 3 weeks around his forehead and left orbit-locations where pain may indicate conjunctival injection and lacrimation. Upon arrival to our hospital, his neurological examination was normal, and brain MRI showed no abnormality. The headache disappeared with indomethacin treatment (75 mg/day), and a diagnosis of hemicrania continua (HC) was established according to the International Classification of Headache Disorders, 2nd Edition. The headache returned after reducing the dose of indomethacin. After adding pregabalin (150 mg/day) to his treatment regimen, we could reduce the dose of indomethacin from 75 mg/day to 25 mg/day, which the patient tolerated well. Although HC is one of the indomethacin-responsive headaches, continuous administration can cause side effects including gastrointestinal disorders. Such side effects can decrease the tolerability of indomethacin, and may eventually lead to its reduction or discontinuation. Pregabalin can be an alternative to indomethacin for treating HC.

A novel PLP mutation in a Japanese patient with mild Pelizaeus-Merzbacher disease.

Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder due to mutations in the proteolipid protein (PLP) gene. PLP gene mutations are responsible for a broad spectrum of disease, from the most severe form, connatal PMD, to a less severe form, spastic paraplegia 2 (SPG2). We describe here a very mild case of PMD in a patient who presented with nystagmus in early infancy and was unable to walk until 1 year 7 months of age. Brain magnetic resonance imaging (MRI) at 1 year 7 months of age revealed white matter abnormalities typical of PMD. Genetic testing revealed a novel mutation of the PLP gene (Gly197Arg). The patient presented with only mildly ataxic gait and slurred speech at the age of 4 years. Gly197Arg is the first novel mutation located within exon 4 of the PLP gene and associated with mild PMD/SPG2 in a Japanese patient.