Manabu Kanayama

Long-term prognosis of asphyxiated full-term neonates with CNS complications

Eighty-six asphyxiated full-term neonates with CNS complications such as hypoxic-ischemic encephalopathy, admitted during a 10-year period (1972-81), were studied. Sixty-three (73%) of the infants survived the neonatal period, and 55 of these, excluding one who died at 7 months, were followed for 3 to 13 years. Thirteen (24%) of these 55 children showed either major (n = 8) or minor (n = 5) abnormalities. The former had multiple significant handicaps such as cerebral palsy, epilepsy and mental retardation. The latter had mild sequelae that did not interfere with normal life. High risk factors of predictive value in infancy for the sequelae were the absence of the Moro reflex over 6 days and abnormal neurological signs on discharge (P less than 0.001, respectively). Although the neonatal mortality decreased slightly in the last four years (1978-81) compared to in the first and second three year periods (1972-74, 1975-77) (P less than 0.10), the unchanged pattern of the outcome over the 10 years might indicate the importance of more preventive and intensive care for perinatal asphyxia to reduce the incidence of handicapped children.

Hypocalcemic hyper-CK-emia in hypoparathyroidism

A 15-year-old boy with increased serum creatine kinase (hyper-CK-emia) due to hypocalcemia in turn caused by idiopathic hypoparathyroidism (HP) is presented. Hyper-CK-emia was incidentally noted while managing a patient, aged nine, with mental retardation, epilepsy and mild hypocalcemia. Neurological examination showed normal deep tendon reflexes and no muscle weakness; electromyogram was normal. The hyper-CK-emia normalized during treatment for the hypocalcemia. Previously reported patients with hypocalcemic hyper-CK-emia or myopathy together with HP are discussed, as well as the degree of hypocalcemia and the wide spectrum of the muscle dysfunction.

Prader-Willi syndrome in two siblings: one with normal karyotype, one with a terminal deletion of distal Xq

Two sibs, a 13‐year‐old girl and an 11‐year‐old girl, with typical clinical features of the Prader‐Willi syndrome (PWS) are reported. High‐resolution chromosome analysis showed the normal karyotype in the eider sister, and 46,X,del(X)(pter→q26.1:) in the younger sister. But an interstitial deletion of 15q was not detected in either of the cases. PWS is most probably an etiologically heterogeneous syndrome consisting of two subgroups, with partial deletion and non‐deletion of chromosome 15, respectively.

Hypocalcemic Induced Increase in Creatine Kinase in Rats

Calcium plays an important role in various myopathies. We report on an animal model with increased plasma creatine kinase (CK) resulting from hypocalcemia that will provide clues for studying human hypocalcemic myopathy. Male Wistar rats were pair-fed either a control or a calcium- and vitamin D3-deficient diet for 1, 2, 3, 4, or 5-6 weeks after weaning (3 weeks old). In the deficient diet-fed rats, plasma creatine kinase was increased and was accompanied by marked hypocalcemia. The omission of calcium and vitamin D3 from the diet for 1 or 2 weeks was enough to cause increased plasma creatine kinase; the creatine kinase ratio of deficient diet-fed rats to controls was 4.84 (1,777 IU L(-1)/367 IU L(-1)), and the calcium ion ratio was 0.41 (1.8 mg dL(-1)/4.4 mg dL(-1)) after 2 weeks. These values returned to control levels on treatment of the rats with the control diet and 1alpha-OH-vitamin D3 for 1 week.

ACTH-Induced Seizures in an Infant with West Syndrome

We report seizures induced by adrenocorticotropic hormone (ACTH), which were demonstrated clinically and electro-encephalographically, in a severely handicapped 7-month-old infant with West syndrome due to perinatal hypoxicischemic encephalopathy. Although tonic spasms (original seizures) decreased soon after starting ACTH treatment, new brief tonic seizures, somewhat more slowly motioned than the original tonic spasms, frequently appeared only during sleep after consecutive ACTH injections for 11 days, in place of the tonic spasms seen in the waking state. After discontinuation of ACTH therapy with the last injection on the 16th day, the brief tonic seizures began to decrease and finally disappeared in 8 days. Ictal EEG of new brief tonic seizures revealed diffuse fast spiky wave bursts, 50-150 microV and 10-20 c/s, with a duration of 0.5-4 seconds, which were different from attenuation associated with low voltage rhythmic fast activity corresponding to tonic spasms, the original seizures. Therefore, we considered that the new brief tonic seizures, which appeared only during sleep in the course of ACTH therapy, were ACTH-induced seizures.

Increased serum creatine kinase due to hypocalcemia in vitamin D deficiency

An 8-year-old boy with vitamin D-deficiency rickets, increased serum creatine kinase (CK), and hypocalcemia is described. At 5 years of age, he was evaluated because of recurrent tonic seizures. He had growth retardation, microcephaly, quadriplegia, mental retardation, and epilepsy. Muscle strength was difficult to assess because of multiple joint contractures. Deep tendon reflexes were hyperactive. Laboratory data indicated rachitic changes on x-ray, hypocalcemia, low serum 25-hydroxyvitamin D3 (25-OH-D) and 1-alpha-25-dihydroxyvitamin D3 (1-alpha-25-[OH]2-D) levels, a normal response to the Ellsworth-Howard test, and markedly increased CK. Electromyography and nerve conduction velocities were normal. The patient responded to 1-alpha-OH-D treatment with increased serum calcium and normal CK activity; a significant correlation (p less than 0.01) was observed between calcium and log CK. The clinical course and laboratory findings supported the hypothesis that the increased CK was due to hypocalcemia, which in turn was due to the vitamin D deficiency in the severely handicapped child with malnutrition.

West Syndrome Associated with Porencephaly

A 3-year-old boy with West syndrome who was shown to have a cystic lesion on magnetic resonance imagings underwent surgical treatment. He had been initially managed with several antiepileptic drugs, but abnormalities on electroencephalography (EEG) persisted. Histological examination of the cystic wall obtained during surgery suggested porencephaly. Two years and 2 months later the child remained seizure-free and his EEG remarkably improved.

Paradoxical eyelid movement in trisomy 2p.

Paradoxical eyelid movement was reported in a 12-year-old female with 46,XX,dup(2)(p25.3p22.2). Alternating seesaw-like movement of the eyelids during lateral gazing had been observed at 5 months of age when she was first referred to our neuropediatric outpatient department, and the abnormal lid movement persisted without any change for 11 years. The differentiation of the features of the paradoxical lid movements in our patient from those of Duane syndrome were discussed, and a possible pathogenesis is discussed as well. Besides ophthalmologic abnormalities, the patient demonstrated severe psychomotor retardation, marked growth failure, symptomatic generalized epilepsy, and multiple anomalies. The dysmorphism consisted of a cleft lip, a narrow high-arched palate, malalignment, lowset ears, and kyphoscoliosis caused by fused thoracic vertebrae.

Postnatal head growth in very premature infants with good outcome.

Postnatal head growth was examined retrospectively in 118 infants (male 60, female 58) born with a gestational age of from 24 to 29 weeks. Infants fulfilled the following criteria: (1) Those with hydrocephalus and small for dates (‐1.5 standard deviation) were excluded. (2) Infants had normal intelligence and no cerebral palsy or epilepsy at 3 years of age or above. They were divided into four groups according to gestational ages: 24–26 wks (n = 21), 27 wks (n = 25), 28 wks (n = 41) and 29 wks (n = 31). The head circumference was measured at least twice monthly. The head growth curves in each group were obtained. After a transient decrease, head growth averaged 1.1‐1.2 mm/day from day 21–30 to day 61–70 in all groups. From day 61–70 to 91–100 head growth averaged 1.2 mm/day at 24–26 wks and 0.8 mm/ day at 27–29 wks, respectively.

A case with athetosis, mental retardation, deafness, and pachygyria

A 6-year-old girl with pachygyria was presented. Regions of pachygiria were seen in the frontal, temporal, and parietal areas in vivo by magnetic resonance imaging. She showed athetosis, mental retardation, deafness, short stature, and microcephalus, but did not show epilepsy. A combination of these symptoms may be a new clinical entity, caused by undetermined prenatal events.