680

The Journal of Pediatrics April 1978

Clinical notes

tetracycline, 1 gm daily, and analgesics as mentioned. Blood pJcessure was normal. Extraocular movements were full with no diplopia on lateral gaze. Funduscopic examination disclosed severely blurred disc margins bilaterally with engorged, nonpulsatile veins. The neck was supple. Skin was clear. Neurotogic examination revealed a clear sensorium, full orientation, and no signs of focal neuropath01ogy. Tetracycline therapy was discontinued. Over the following two weeks, there was a progressive decrease in frequency and severity of headaches. F u n d u s examination at the end of the second week showed decreased venous engorgement and clear optic discs. A n electroencephalogram was completely normal. On further follow-up, the patient reported that her headaches had completely cleared. She had no further episodes of diplopia or vomiting. Her acne has not recurred. DISCUSSION The rapid reversal of the patient's two-month course of nearly constant headaches, with concomitant return of the appearance of the fundi to normal, strongly implicates tetracycline as the etiologic factor in the elevation of intracranial pressure. Tetracycline-associated intracranial hypertension is well known in infants, in whom it.presents as the "bulging fontanel syndrome. ''~ Although the .dosage in this case exceeds that recommended for acne therapy, Other cases have not been dose related. Only three other cases in individuals whose sutures had fused have been reported2 -~ In two, the syndrome occurred early and was preceded by a hypersensitivity reaction. The third, a 16-year-old girl; also noted onset of headache and visual disturbances five to six months after beginning ther~ipy. Adolescents have received tetracycline for the treatment of ache for over 25 years; it is estimated that 10% of the tetracycline produced for h u m a n use in the United States is prescribed for this purpose. Pseudotumor cerebri is a rare, but Serious, complication which should be considered in the patient receiving tetracycline Who exPeriences severe headaches. Bradley Hall Stuart, M.D. Graduate Medical Student Iris F. Litt, M.D. Associate Professor of Pediatrics Director, Adolescent Medicine StanJbrd University Medical Center StanJbrd, CA 94305

Familial 14/15 translocation chromosome carriers detected by fetal propositus In various surveys of Robertsonian translocations involving D chromosomes, 1-:' the majority of such translocations have been chromosomes 13/14 with a small percentage being 14/15. None of the phenotypically normal translocation chromosome carriers have been ascertained by virtue of the birth of a trisomy syndrome. This report describes a family comprised of numerous phenotypically normal individuals with 14/15 balanced translocati0ns. The propositus was a fetus whose translocation status was detected by amniocentesis performed because of age of the parents. CASE REPORT

Mr. and Mrs. G, 40 and 36 years of age, respectively, were referred for amniocentesis during her sixth pregnancy. The five previous pregnancies had resulted in four living normal children; the fourth pregnancy, in 1970, ended in a spontaneous abortion at two months' gestation. Ultrasonography and a!pha-fetoprotein levels were normal at the sixteenth week Of the pregnancy. Chromosome evaluation revealed a fetus with 45,XX + t(14q; 15q). Peripheral lymphocyte cultures demonstrated that Mrs. G, three of her four children, and Mrs. G's father were balanced 14/15 transloc/~tion chromosome carriers (Figs. 1 and 2). The parents were reassured by the normal phenotypes of the living familial carriers and the pregnancy was continued. After a term gestation and normal verteX delivery, a healthy and physically normal infant female, with birth weight 4.3 kg, was born on August 12, 1977.

Partial support by The National Foundation-March of Dimes, Medical Service Program Grant C-152, and the New Jersey State Department of Health Grant.

KEY (~ 14/15 TRANSLOCATION CARRIER (~) NORMAL CHROMOSOMES

REFERENCES

1. American Academy of Pediatrics, Committee on Drugs: The treatment of acne with antibiotics, Pediatrics 48:663, 1971. 2. Fields JP: Bulging fontanel: A complication of tetracycline therapy in infants, J PEDIATR 58:74, 1961. 3. Maroon JC, and Mealy J: Benign intracranial hypertension: Sequel to tetracycline therapy in a child, J A M A 216:1479, 197E 4. Koch-Weser J, and Gilmore EB: Benign intracranial hypertension in an adult .after tetracycfine therapy, J A M A 200:345, 1967. 5. Giles CL, a n d Soble AR: Intracranial hypertenfion and tetracycline therapy, Am J Ophthal 72:981, 1971.

PEDIGREE OF G FAMILY Fig. I. Pedigree of the G family illustrating transmission of 14/15 translocation chromosome carrier state from m a t e r n a l grandfather to mother to offspring. 0022-3476/78/0492-0680500.20/0 9 1978 The C. V. Mosby Co.

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Clinical notes

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'D|

|I

I Fig. 2. D group chromosomes for 14/15 translocation carriers in the G family.

DISCUSSION Balanced Robertsonian translocation chromosome carrier states of the 14/15 type have not been associated with phenotypic abnormalities or mental retardation, as illustrated by this family. This was confirmed by the birth of the phenotypically normal translocation carrier daughter who had been detected in utero by amniocentesis studies. These investigations led to the discovery of five Other normal family members with similar chromosomal findings. ADDENDUM

Since submission of this paper, another family with paternal 14/15 translocation carrier status has been detected by amniocentesis, which indicated a translocation chromosome carrier fetus. These studies were done for advanced child-bearmg age. Theodore Kushnick, M.D. Professor .of Pediatrics Director of Division of Human Genetics New Jersey Medical School 100 Bergen St. Newark, NJ 07103 Bernard Searle, Ph.D. Adjunct Instructor of Pediatrics Director of Genetics Laboratory Susan Schmerler, M.S. Genetic Counsellor Associate Constance Kieha, B.A. Marietta Mascarina, B.S. George Vasios, B.S. REFERENCES

1. Hecht F, and Kimberling W J: Patterns of D chromosome involvement in human (DqDq) Robertsonian rearrangements, Am J Hum Genet 23:361, 1971.

2.

Cohen MD: The chromosomal constitution of 165 human translocations involving D group chromosomes identified by autoradiography, Ann Genet 14:87, 1971. 3. Zeuthen E, and Nielson J: D / D translocations in males examined for military services, J Med Genet 10:356, 1973.

Protein-induced hypoglycemia in a phenylketonuric patient It is customary to differentiate classical phenylketonuria and hyperphenylalaninemia with phenylalanine loading, using crystalline amino acid or natural protein. Untoward reactions to such tests have been repeatedly reported, but the mechanism has not been defined. During a phenylalanine loading test using natural proteinl we have observed hypoglycemia in a 15-year-old, mentally retarded Iranian girl with phenylketonuria. CASE REPORT

The patient came to this country for medical advice because of unusual neurologic complaints. The pregnancy and delivery were normal, but since early childhood she had had intermittent episodes of loss of concentration, headaches, dizziness, dysarthria, and diaphoresis following ingestion of meals high in protein content. For these reasons, her daily protein intake was relatively low. Her developmental milestones were delayed and two episodes of grand mat seizures occurred at the ages of nine and ten years. Electroencephalograms were abnormal. At the time of the study, she was three years behind her peers in school. Her parents and three siblings were physically normal, asymptomatic, and without mental retardation. The patient was mildly obese but normally developed. She was definitely retarded, a l t h o u g h her intelligence could not be accurately determined because of language barrier. Neurologic 0022-3476/78/0492-0681500.20/0 9 1978 The C. V. Mosby Co.

15 translocation chromosome carriers detected by fetal propositus.

680 The Journal of Pediatrics April 1978 Clinical notes tetracycline, 1 gm daily, and analgesics as mentioned. Blood pJcessure was normal. Extraocu...
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