Tetsuhiro Fukuyama

Treatment of neurodegenerative CNS disease in Langerhans cell histiocytosis with a combination of intravenous immunoglobulin and chemotherapy.

In rare cases, patients with Langerhans cell histiocytosis (LCH) develop neurodegenerative CNS disease (ND‐CNS‐LCH). Management of ND‐CNS‐LCH has not been established.

Acute encephalopathy in an immunocompromised boy with astrovirus-MLB1 infection detected by next generation sequencing.

We report a case of an immunodeficient 4-year-old boy with acute encephalopathy possibly related to human astrovirus-MLB1 infection. The astrovirus-MLB1 genome was identified in his stool, serum, cerebrospinal fluid, urine, and throat swabs by next generation sequencing. We present additional evidence showing human astroviruses are important infectious agents, regardless of their clades, involving the central nervous system in immunocompromised hosts.

Effects of hypoglossal and facial nerve injuries on milk-suckling.

Functional roles of the perioral anatomical structures involved in breastfeeding were examined in newborn rat pups in which the hypoglossal (XII) and facial (VII) nerves had been resected at the neonatal stage. The XII nerve controls tongue movement and is comprised of two functionally distinct branches: the medial branch related to protrusion of the tongue and the lateral branch related to its retraction. Newborn rat pups with bilateral resection of either of the XII nerve components (main trunk: XII‐trunk; medial branch: XII‐med; lateral branch: XII‐lat) failed to suckle milk and did not survive. Unilateral XII nerve‐resected neonates showed different milk‐suckling capabilities, which thus resulted in differences in survival rate (XII‐trunk: 38%; XII‐med: 24%; XII‐lat: 92%) and postnatal growth during the postnatal 3 weeks until P21. Unilateral and bilateral resections of the VII nerve innervating the buccolabial musculature produced lowered suckling capabilities and retarded postnatal growth, although all pups showed 100% survival. The results indicate a crucial role of the tongue, especially of protruding muscular elements innervated by the XII‐med nerve, in breastfeeding. The results also indicate differential effects of the VII and XII nerve components on suckling capability, survival, and postnatal growth of newborn rat pups.

Differential effects of hypoglossal and facial nerve injuries on survival and growth of rats at different developmental stages.

The hypoglossal (XII) nerve is made up of functionally different nerve branches: the medial branch related to protrusion of the tongue and the lateral branch related to its retraction. The present study was performed to determine the effects of facial (VII) and XII nerve injuries on the survival and growth of rats in which the unilateral or bilateral VII and XII nerve components (main trunk, XII‐trunk; medial branch, XII‐med; lateral branch, XII‐lat) had been resected at different developmental stages. In the suckling period, unilateral as well as bilateral injuries in the XII‐trunk or XII‐med nerve produced disturbed milk intake, lower survival rates and growth retardation in the nerve‐injured rats. In the transition and mastication periods, only bilateral injury in the XII‐trunk or XII‐med nerve produced disturbed food intake followed by lower survival rates and growth retardation in those animals. The unilateral XII‐lat nerve injury did not have significant effects on milk and food intake, whereas the bilateral injury caused disturbance in milk intake especially at the early neonatal stage. The unilateral VII nerve injury at the early neonatal stage caused deteriorating effects on food intake resulting in lower survival rate and severe growth retardation in the nerve‐injured rats. The results indicate that the survival and growth of XII and VII nerve‐resected rats differ considerably depending on the nerves injured and the developmental ages of the animals at the time of nerve insult.

Successful treatment of fulminant Wilson's disease without liver transplantation

Fulminant Wilsons disease (WD) is life‐threatening. The revised WD prognostic index (RWPI) has been used to predict the severity of the disease, with a score ≥11 indicating fatal outcome without liver transplantation (LTx). We here report the case of a 10‐year‐old female patient with fulminant WD (RWPI, 16) who recovered fully after plasma exchange and continuous hemodiafiltration, followed by treatment with copper chelate agents. To the best of our knowledge, there have been five fulminant WD patients with RWPI ≥ 11 including the present patient, in whom LTx was not done. Based on the therapeutic modalities in these five cases, non‐surgical treatment (blood purification and copper chelate agents) may be able to avoid LTx in fulminant WD even with very high RWPI, although preparation for LTx is necessary.

Prophylactic treatment for hypertension and seizure in a case of allogeneic hematopoietic stem cell transplantation after posterior reversible encephalopathy syndrome

Fukuyama T, Tanaka M, Nakazawa Y, Motoki N, Inaba Y, Higuchi T, Koike K. Prophylactic treatment for hypertension and seizure in a case of allogeneic hematopoietic stem cell transplantation after posterior reversible encephalopathy syndrome. Pediatr Transplantation 2011: 15: E169–E173.

Urinary excretion of ganciclovir contributes to improvement of adenovirus-associated hemorrhagic cystitis after allogeneic bone marrow transplantation.

Abstract:  A nine‐yr‐old girl developed AdV‐associated HC after bone marrow transplantation. Intravenous GCV markedly reduced urinary AdV DNA loads and improved clinical findings. This appeared to result partly from a high concentration of GCV in urine. GCV may be effective for AdV‐induced HC without definitive disseminated infection.

An Adolescent Case of Citrin Deficiency With Severe Anorexia Mimicking Anorexia Nervosa.

We report a 12-year-old female citrin-deficient patient presenting with severe anorexia and body weight loss, mimicking the restricting type of anorexia nervosa (AN). She showed normal development until age 10 years when she started to play volleyball at school. She then became gradually anorexic, and her growth was stunted. At age 12, she was admitted to hospital because of severe anorexia and thinness. She was first thought to have AN, and drip infusion of glucose solution and high-calorie drinks were given, but her condition deteriorated further. She had a history of neonatal hepatitis and was therefore suspected to have citrin deficiency (CD). Genetic analysis of SLC25A13 revealed that she was compound heterozygous for 851del4 and IVS16ins3kb, and a diagnosis of CD was made. A low-carbohydrate diet with oral intake of arginine and ursodeoxycholic acid was started, and her condition gradually improved. The clinical features in our patient were similar to those of AN, and therefore AN may also be an important clinical sign in adolescent patients with CD.

Critical illness polyneuropathy and myopathy caused by Bacillus cereus sepsis in acute lymphoblastic leukemia.

We report a pediatric case of critical illness polyneuropathy and myopathy caused by Bacillus cereus sepsis during acute lymphoblastic leukemia therapy. A 15-year-old boy developed B. cereus sepsis and multiple organ failure on the 19th day after initiation of chemotherapy, and multidisciplinary treatment was started. Treatment was effective and septic shock with multiple organ failure remitted. He was weaned from a respirator on day 23 after the onset of sepsis, but complete flaccid paralysis of the 4 extremities occurred. His compound muscle action potential and F-wave occurrence were reduced on a nerve conduction test. The number of motor units was markedly decreased, and the amplitude and duration of individual motor units were low and short, respectively, on electromyography. Cerebrospinal fluid was normal. On the basis of these findings, he was diagnosed with critical illness polyneuropathy/myopathy. He underwent intensive rehabilitation and recovered the ability to walk 3 months after onset. He was discharged 1 year after the initiation of chemotherapy, and remission has been maintained without inconvenience to daily living activities for 3 years since disease onset.

Reflex seizures induced by micturition and defecation, successfully treated with clobazam and phenytoin

We report a six-year-old girl with seizures induced by both micturition and defecation. Several days after unprovoked generalised tonic-clonic seizures, she developed reflex seizures characterised by the extension of both arms and rhythmic jerking of her upper body. No abnormal findings were noted on brain magnetic resonance imaging. Interictal electroencephalography (EEG) showed spike-and-wave activity on central electrode recording, and rhythmic fast activitywas recorded by central electrodes during the ictal EEG upon micturition. The combination of clobazam and phenytoin was effective for both unprovoked and reflex seizures. Although some previous reports have described reflex seizures triggered by either micturition or defecation, this is the first case report of reflex seizures induced by both micturition and defecation in the same patient. Based on a comparison with previous cases of reflex seizures induced either by micturition or defecation, the neuronal pathway from the pelvic base musculature to the supplementary motor area may be responsible for the condition in our patient.