• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.14-22
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• 2012

Objectives: This study was performed to review clinical manifestations of hyperphenylalaninemia patients in Korean. Methods: 178 cases of hyperphenyalaninemia were diagnosed at department of pediatrics, Soonchunhyang University Hospital from January, 1983 to August. We reviewed DNA analysis, MR imaging, EEG, radiography of the left hand and wrist, bone densitometry (BMD), IQ test of hyperphenyalaninemia patients. Results: Out of 178 cases, 161 cases were diagnosed classic phenylketonuria and 17 cases were diagnosed BH4 deficiency. 122 cases performed DNA analysis. R243Q (10.3%), Y204C (9.9%), and IVS4-1G>A (8.1%) mutations were predominant. 22 cases underwent MR imaging. Varying degrees of symmetrical high signal intensity were noted on T2-weighted sequences in the periventricular deep white matter of 15 cases. 23 cases were performed EEG. 12 cases (52.3%) showed abnormal pattern. EEG abnormalities showed in 11 cases. On lumbar BMD four of 11 cases (36%) showed reduced bone density of more than 1 S.D. in four of 11 cases, bone age was less than chronological age by at least one year. 18 cases were performed IQ test. Mean IQ scores was $84{\pm}21.6$. Among older than 15 years (9 cases), Mean IQ scores was $72{\pm}21.2$. PTPS deficiency was 14 cases, DHPR deficiency was 2 cases, and GTPCH deficiency was 1 case. Conclusion: We confirmed there were varieties of DNA mutations. And MR imaging and EEG were nonspecific in PKU patients. Older children showed lower IQ score. Low phenylalanine diet prevents brain damage in PKU patient. Not only first few years of life but also lifetime, Keeping low phenylalanine diet is important.

• Korean Journal of Psychosomatic Medicine
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• v.4 no.2
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• pp.269-276
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• 1996

A theroretical study was made on the psychodynamism of somatoform disorder. Somatoform disorder is caused by a defense mechanism of somatization. Somatization is the tendency to react to stimuli(drives, defenses, and conflict between them) physically rather than psychically(Moore, 1990). Ford(1983) said it is a way of life, and Dunbar(1954) said it is the shift of psychic energy toward expression in somatic symptoms. As used by Max Shur(1955), somatization links symptom formation to the regression that may occur in response to acute and chronic conflict. In the neurotic individual psychic conflict often provokes regressive phenomena that may include somatic manifestations characteristic of an earlier developmental phase. Schur calls this resomatization. Pain is the most common example of a somatization reaction to conflict. The pain has an unconscious significance derived from childhood experiences. It is used to win love, to punish misdeeds, as well as a means to amend. Among all pains, chest pain has a special meaning. Generally speaking, 'I have pain in my chest' is about the same as 'I have pain in my mind'. The chest represent the mind, and the mind reminds us about the heart. So we have a high tendency to recognize mental pain as cardiac pain. Kellner(1990) said rage and hostility, especially repressed hostility, are important factors in somatization. In 'Psychoanalytic Observation on Cardiac Pain', psychoanalyst Bacon(1953) presented clinical cases of patients who complained of cardiac pain in a psychoanalytic session that spread from the left side of their chests down their left arms. The pain was from rage and fear which came after their desire to be loved was frustrated by the analyet. She said desires related to cardiac pain were dependency needs and aggressions. Empatic relationship and therapeutic alliances are indispensable to psychotherapy in somatoform disorder. The beginning of therapy is to discover a precipitating event from the time their symptoms have started and to help the patient understand a relation between the symptom and precipitating event. Its remedial process is to find and interpret a intrapsychic conflict shown through the symptoms of the patient. Three cases of somatoform disorder patients treated based on this therapeutic method were introduced. The firt patient, Mr. H, had been suffering from hysterical aphasia with repressed rage as ie psychodynamic cause. An interpretation related to the precipitating event was given by written communication, and he recovered from his aphasia after 3 days of the session. The second patient was a dentist in a cardiac neurosis with agitation and hypochondriasis, whose psychodynamism was caused by a fear that he might lose his father's love. His symptom was also interpreted in relation to the precipitating event. It showed the patient a child-within afraid of losing his father's love. His condition improved after getting a didactic interpretation which told him, to be master of himself, The third patient was a lady transferred from the deparment of internal medicine. She had a frequent and violent fit of chest pains, whose psychodynamic cause was separation anxiety and a rage due to the frustration of dependency needs. Her symptom vanished dramatically when she wore a holler EKG monitor and did not occur during monitoring. By this experience she found her symptom was a psychogenic one, and a therapeutic alliance was formed. later in reguar psychotherapy sessions, she was told the relaton between symptoms and precipitating events. Through this she understood that her separation anxiety was connected to the symptom and she became less terrifide when it occurred. Now she can travel abroad and take well part in social activities.