Yutaka Tsuchiya

EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations

Familial cases (a grandfather, a father and a daughter) of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) are reported. All of them have a balanced reciprocal translocation (46,XY or XX, t(7;9) (q11.21;p12) or (46,XY or XX, t(7;9) (p11.2;q12)), but no other members of the family have either the EEC syndrome or chromosome abnormalities. This indicates that one of the chromosome sites 7q11.21, 9p12, 7p11.2 and 9q12 is a candidate for gene locus of the EEC syndrome.

Symmetrical thalamic lesions on CT in influenza A virus infection presenting with or without Reye syndrome

In Reye encephalopathy, diffuse brain swelling is a well known CT finding, but focal CT lesions have not been documented. We report 2 children with Reye encephalopathy and 2 children with non-Reye encephalopathy both associated with influenza A virus infection in whom symmetrical low density lesions of the thalamus and brainstem were detected on CT. These symmetrical low density lesions were present in the acute phase and decreased in size within a few weeks in all, and are still seen 2 years later as clearly defined small round areas in 3 surviving patients. Paired influenza A virus titers in blood showed 4-fold or more increase in all. Myelin basic protein (MBP) in CSF was increased in 2 of the 3 subjects studied. Liver biopsy showed diffuse lipid droplet infiltration in 2, focal infiltration in 1, and normal morphology in 1. The above data suggest that the symmetrical low density lesions were associated with influenza A virus infection, most likely consisting of edema, demyelination, and necrosis. We suspect that there is a continuum of Reye syndrome and virus-associated encephalopathy with significant overlap.

On-off phenomenon in a child with tetrahydrobiopterin deficiency due to 6-pyruvoyl tetrahydropterin synthase deficiency (BH4 deficiency)

Marked fluctuations in mobility, known as the on-off phenomenon, frequently emerge during the course of chronic treatment with levodopa in patients with Parkinsons disease. Similar fluctuations in mobility and mental status have been observed in a 10-year-old Japanese girl with tetrahydrobiopterin deficiency (BH4 deficiency) while receiving neurotransmitter and biopterin supplement. In order to define the underlying mechanisms for the phenomenon in our patient, we studied the temporal relationship between plasma levodopa levels and clinical status during oral (2.0 mg/kg per day) and continuous intravenous (2.0 mg/kg per 12 h) administration of the drug. Following each oral levodopa dose, the plasma concentration of levodopa peaked at 60–90 ng/ml within 60 min and fell to 5–15 ng/ml within 2 h. The clinical state of the patient varied acutely in parallel with the plasma levodopa concentrations. The clinical swings completely disappeared when the plasma levodopa concentrations were stabilized between 120–150 ng/ml by continuous infusion. Paradoxically, on awakening from sleep, she was invariably ambulatory despite very low plasma levodopa levels (<10 ng/ml). These observations indicate that the on-off phenomenon in our patient reflect the fluctuations of plasma levodopa levels as demonstrated in Parkinsons disease, but there may be substantial differences in levodopa transport across the blood-brain barrier and/or striatal dopamine-receptor interaction between Parkinsons disease and BH4 deficiency.

Proximal renal tubular acidosis in a child with type 1 glycogen storage disease.

ABSTRACT. A 6 1/2‐year‐old Japanese girl with type 1 glycogen storage disease developed a profound metabolic acidosis refractory to bicarbonate renal tubular acidosis and hyperphosphaturia. There was no evidence of distal tubular dysfunction.

Japanese type of spondylo-metaphyseal dysplasia

Five members of a Japanese family with a new form of spondylo-metaphyseal dysplasia (SMD) are reported. Another member was also probably affected. The disease was characterised by severe coxa vara, moderately severe metaphyseal changes of the long bones of the lower limbs, mild changes in the long bones of the upper limbs and grossly normal short tubular bones. Platyspondyly, present in the boys, was less marked in their father, whereas two affected aunts had normally shaped vertebral bodies.

Unmasking of latent hypoparathyroidism in a child with partial DiGeorge syndrome by ethylenediaminetetraacetic acid infusion

DiGeorge syndrome is a rare congenital anomaly with a wide range of clinical manifestations. This syndrome is usually associated with hypocalcaemia resulting from primary hypoparathyroidism. We report here a case of an 8-year-old boy with partial DiGeorge syndrome who presented initially with neonatal hypocalcaemia, but was subsequently normocalcaemic. Latent hypoparathyroidism was unmasked by a diagnostic EDTA infusion resulting in hypocalcaemia without a parathyroid hormone response. We propose that EDTA infusions can be useful in the diagnosis of latent hypoparathyroidism in children.

Analysis of Blood Spot 17α-Hydroxyprogesterone Concentration in Neonates

Blood spot 17α-hydroxyprogesterone (17-OHP) concentrations were measured in 515 infants aged from the 4th to the 81 st day of life, using a fluorescence enzyme immunoassay method, and the values obtained were analyzed with respect to birth weight, gestational age at birth and sampling age, to obtain accurate reference ranges and to decide appropriate cut-off limits in a neonatal mass screening for steroid 21 -hydroxylase deficiency. The results obtained indicate that the blood spot 17-OHP values in neonates should be interpreted using several different reference ranges obtained on the basis of the equivalent age of gestation at blood sampling. In the mass screening, therefore, the cut-off limits for recall are decided by these reference ranges as follows: (1) for blood resampling, 120, 30 and 25 nmol/l for the equivalent sampling ages of 31 weeks or less, 32–41 weeks and 42 weeks or more, respectively, and (2) for rapid confirmation of the disease by means of physical and laboratory examinations, 210, 60 and 60 nmol/l, respectively.

Malignant thymoma in a patient with growth hormone deficiency during growth hormone therapy.

Malignant thymoma was found in an 8-year-old Japanese boy with growth hormone (GH) deficiency who had received GH therapy for 3 years and 5 months. There may be a possible relationship between the occurrence of malignant thymoma and GH therapy.

Fructose and glucagon loading in siblings with fructose-1,6-diphosphatase deficiency in fed state

SummaryHypoglycaemia induced by fructose administration is one of the diagnostic clues to fructose-1,6-diphosphatase (FDPase) deficiency (McKusick 229700). However, the pathological mechanism of this reactive hypoglycaemia is not fully known. This paper describes two siblings with FDPase deficiency, diagnosed enzymatically in leukocytes, who failed to correct reactive hypoglycaemia after glucagon administration even in the fed state, supporting a possibility that disturbed hepatic phosphorylase activity may be a main cause of reactive hypoglycaemia.

Diagnostic value of ethylenediaminetetraacetic acid infusion in partial DiGeorge anomaly

Sir: In the DiGeorge anomaly, the wide range of clinical variability explains the difficulty in identifying the partial forms. Hasegawa et al. [3] infused ethylenediaminetetraacetic acid [1, 4] to unmask hypoparathyroidism in a child who was suspected of suffering from partial DiGeorge anomaly. They report that calcaemia fell more than in the controls without an adequate serum PTH reaction. However, the induced hypocalcaemia in the patient and in part of the control group exposed them to the risk of tetany. Therefore, one may ask if this test is preferable to an infusion of PTH (1-34) and evaluation of the cyclic AMP response which identifies the hypoparathyroid subject without risk of hypocalcaemia [5]. Does the ethylenediaminetetraacetic acid test prognosticate the transformation of latent into overt hypoparathyroidism? Could it be included in a numerical diagnostic score, so as to facilitate the diagnosis of partial DiGeorge anomaly? [2].