Fumiyuki Ito

Transient, unilateral, isolated hypoglossal nerve palsy

We report a boy with isolated hypoglossal nerve palsy that recovered within twelve weeks. Investigations of the cervix, base of the skull, medulla and hypoglossal nerve by CT-scan and MRI did not show any abnormal findings. There are a few reports concerning isolated unilateral hypoglossal nerve palsy with benign course. Although we could not establish the cause of our patients disease, an awareness of this condition should save such patients from unnecessary invasive studies.

Aicardi syndrome: Postmortem findings

A 2-month-old infant with the typical clinical features of Aicardi syndrome (i.e., infantile spasms, chorioretinal lacunae, and agenesis of the corpus callosum) is reported. At 5 years of age, pathologic examination revealed cortical heterotopias, rostral agenesis of the corpus callosum, hypoplasia of the unilateral optic nerve, and bilateral cerebellar hemispheres. Cavum septum pellucidum was present. A literature review of 5 autopsied patients with this syndrome is included.

Enzyme replacement with liposomes containing beta-galactosidase from charonia lumpas in murine globoid cell leukodystrophy (twitcher)

Enzyme replacement with liposomes containing beta-galactosidase obtained from charonia lumpas was carried out in murine globoid cell leukodystrophy (GLD). Charonia lumpas beta-galactosidase was able to hydrolyze galactocerebroside trapped into liposomes prepared from lecithin, cholesterol and sulfatide (molar ratio; 7:2:1). Liposomes containing charonia lumpas beta-galactosidase were successfully incorporated into the mouse tissues. 3H-galactocerebroside labeled liposomes were also incorporated into mouse liver, spleen and other tissues. The accumulation rate of 3H-galactocerebroside into twithcer mice liver and spleen was almost 40 to 100 times higher than those of controls and degraded to 70 to 80% of accumulated radioactivity of 3H-galactocerebroside by single injection of liposomes containing charonia lumpas beta-galactosidase. Results suggest that exogeneous enzyme trapped in liposomes can be useful for the correction of accumulated compound.

Home-based palliative care for children with cancer in Japan, present issues and future prospects

A 6-year-old Japanese girl who presented with headaches and right hemiplegia was admitted to Daisan Hospital, Tokyo, Japan. She also had right facial nerve palsy and left abducens nerve palsy. Her brain magnetic resonance imaging disclosed a swollen ponse occupied by a large tumor which oppressed the fourth ventricle. After being diagnosed with inoperable pontine glioma, the patient was initially treated with 56 Gy local irradiation and VP-16 oral chemotherapy. Her life expectancy was estimated to be from 1–2 years at best. The patient’s parents were informed of the diagnosis and prognosis, however the parents decided not to tell their daughter that she had cancer. Instead, the patient was informed that she had a lump in her head and she was told about what would happen to her body during treatment. Some possible medical interventions were explained to both the patient and her parents. The patient and her family members chose home-based palliative care in order to stay together as long as possible. They all received counselling from a pediatric psychotherapist throughout the patient’s illness. She began rehabilitation with physical therapists, and during this initial period was educated at home by her school teacher. One year and 3 months after the onset of her illness, her disease became progressive. She complained of headaches, dysphagia and respiratory distress caused by the enlarging tumor. She was admitted to the hospital on numerous occasions. To alleviate rising intracranial pressure, corticosteroids were used and her headaches subsided. However, the prolonged use of corticosteroids caused a severe bacterial and fungal infection. She was then treated with antibiotics, antifungal agents, oxygen inhalation and physical therapy. A central venous catheter was inserted for repeated infusions and central venous nutrition. During her hospitalization, her mother was trained in some medical procedures, including managing her daughter’s indwelling central catheter, physical therapy, oxygen inhalation and suction drainage. When she returned home, her home-based palliative care was provided by a community-based home care system. When it reached terminal stage, she and her family requested a DNR (do not resuscitate) order and to allow her to die in the hospital. One year and 9 months after the onset of her illlness, she died of her progressive disease in the hospital without cardiopulmonary resuscitation, surrounded by her family. She was also afflicted with severe infection and disseminated intravascular syndrome. Three and half months after her death, the patient’s brother, who was 2 years older, began to have psychological problems. His school teacher commented that he could no longer concentrate in class. Counselling for him and his mother revealed that he felt lonely and overwhelmed by his sibling’s disease and ensuing death.

Post-infectious leukoencephalopathy as a complication of mycoplasma pneumoniae infection

We report a 9-year-old girl with leukoencephalopathy who demonstrated serologic evidence of a Mycoplasma pneumoniae infection. She had a mild upper respiratory tract illness 10 days prior to admission and developed walking difficulty and somnolence. The neurologic symptoms progressed to semicoma and spastic paraplegia over a few days but began to improve on the fourth day. Cranial computed tomography on the eleventh day revealed an area of diffuse low density in the white matter. Cerebrospinal fluid examination was normal. The patient recovered with minimal motor deficits. Cranial computed tomography was normal. She was diagnosed as having leukoencephalopathy complicated by a Mycoplasma pneumoniae infection. The pathogenesis of this infection is believed to be an allergic reaction to Mycoplasma pneumonia of the central nervous system as well as an acute disseminated encephalomyelitis.

Retinochoroidal infarction during the treatment of acute lymphoblastic leukemia

A 4-year-old girl was admitted to Daisan Hospital, Jikei University School of Medicine, Tokyo because of fever, purpura and pale facial appearance. Her blood examination results showed anemia and thrombocytopenia. Her white blood cell count was elevated to 23 500/ L, containing 70% blasts in peripheral blood. In her bone marrow, mononuclear cells totalled 123 000 L and atypical lymphoblasts dominated at 96%. She was diagnosed with ALL, L1, based on the French – US – British classifi cation. Immunologically, CD 10, 19, 13, 33 and human leukocyte antigen-DR were positive in her leukemic blasts, which indicates biphenotypic ALL. Induction chemotherapy was started based on the Tokyo Children’s Cancer Study Group (TCCSG) protocol for high-risk patients of ALL. 1 One week later her treatment was changed to an extremely highrisk regimen because of resistance to the initial steroid treatment. Complete remission (CR) was achieved on day 49 and all scheduled chemotherapy was completed in 14 months. Five months after the completion of chemotherapy, she relapsed. Re-induction chemotherapy in combination with l-asparaginase (l-asp), vincristine, daunorubicin and prednisolone was started based on the TCCSG protocol for the relapsed ALL. 1

Hurler syndrome with severe complication in post‐bone marrow transplantation course: Life threatening interstitial pneumonitis and hypertension

Bone marrow transplantation (BMT) was performed in a 3 year old patient with Hurler syndrome. The post‐BMT course was complicated by interstitial pneumonitis and severe hypertension, which were life threatening. The patient responded well to therapy and recovered. BMT in this patient resulted in significant clinical improvement in the signs and symptoms of Hurler syndrome. Biochemical improvement, including elevated α‐l‐iduronidase activity in white blood cells and decreased urinary glycosaminoglycan excretion was significant. However, skeletal and neurological impairment were not improved. We conclude that BMT for Hurler syndrome should be performed at an earlier stage, before severe neuronal damage has occurred. Moreover, BMT is a high risk procedure and there will always be a possibility that life threatening complications will occur, as in our case.

Well-developed infant with hypoxic-ischemic encephalopathy associated with EEG burst suppression and subcortical leukohypodensity on CT scan.

In the prediction of neurological sequelae after hypoxic‐ischemic encephalopathy (HIE) in the newborn, the electroencephalogram (EEG) burst suppression pattern (BS) and subcortical leukomalacia can mean grave neurodevelopmental problems will develop.

Urocanic acid contents in histidinaemic infant and developing rat epidermis

The ratio of urocanic acid to histidine in stratum corneum can be used to differentiate patients with histidinaemia from normal subjects. The histidinaemia heterozygotes have intermediate ratios.

Serum Somatomedin Activity in Growth Hormone Deficient, Achondroplasia and Uremic Children

Serum somatomedin activity in growth hormone deficient, achondroplasia and uremic children were measured using the embryonic chick pelvic rudiment method described by Hall. Three cases of achondroplasia showed normal somatomedin activity. Serum from the three cases of chronic renal failure showed a reduction of 50% as compared to the control subjects. Impaired growth associated with uremia may be attributed to many causes including uremic toxicity, anemia and lack of nutrition. Data suggest that the growth failure in patients with chronic renal failure, at least in part, is due to diminished serum somatomedin activity. Three patients with growth hormone deficiency had a low serum somatomedin activity. In these cases, the injection of human growth hormone caused an increase of serum somatomedin activity. After 12 hours following a HGH single dose injection, there was slight elevation of serum somatomedin activity as compared to that before injection. Increased somatomedin activity 24 hours after HGH injection was significantly high and remained at normal levels for 2 days though the administrated HGH had disappeared.