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Sotos syndrome

Sotos syndrome (also known as cerebral gigantism) is a rare genetic disorder characterized by excessive physical growth during the first 2 to 3 years of life. The disorder may be accompanied by mild mental retardation, delayed motor, cognitive, and social development, hypotonia (low muscle tone), and speech impairments. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have larger heads (macrocrania) than is normal for their age. more...

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Symptoms of the disorder, which vary among individuals, include a disportionately large and long head with a slightly protrusive forehead, large hands and feet, hypertelorism (an abnormally increased distance between the eyes), and downslanting eyes. Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur. Although most cases of Sotos syndrome occur sporadically, familial cases have also been reported.

Incidence

Incidence is approximately 1 in 14,000 births.

Description

Characterized by overgrowth and advanced bone age. Affected individuals are dysmorphic with macrodolichocephaly, downslanting palpebral fissures and a pointed chin. They have motor and speech delays but typically have normal intelligence.

Genetics

Most reported cases of Sotos syndrome have been sporadic and may represent new dominant mutations.

Treatment

There is no standard course of treatment for Sotos syndrome. Treatment is symptomatic.

Prognosis

Sotos syndrome is not a life-threatening disorder and patients may have a normal life expectancy. The initial abnormalities of Sotos syndrome usually resolve as the growth rate becomes normal after the first few years of life. Developmental delays may improve in the school-age years, however, coordination problems may persist into adulthood.

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Rumination in two developmentally normal children: case report and review of the literature
From Journal of Family Practice, 5/1/94 by Shmuel Reis

This report describes the cases of two normal 6-year-old children, both of whom experienced rumination for a period of 6 to 8 months, followed by full remission. For each of these children, rumination was a reaction to situational stress (adoption and maladaption, respectively). These cases represent the addition of a new form of rumination to the literature: a benign, self-limited childhood disorder of mentally and developmentally normal children, distinctly different from "rumination disorder," as defined by the Diagnostic and Statistical Manual of Mental Disorders (DSM-III-R).

Key words. Stomach, ruminant; gastroesophageal reflux; stress, psychological; adjustment disorders.

This report focuses on the phenomenon of regurgitating and rechewing food in two patients, aged 6 and 5-1/2 years. This phenomenon, known by the term rumination or merycism, has been described earlier in several circumstances[1-12] (Table).

The Diagnostic and Statistical Manual of Mental Disorders[13] (DSM III-R) defines "rumination disorder" as "repeated regurgitation of food, with weight loss or failure to gain expected weight, developing after a period of normal functioning. Partially digested food is brought back into the mouth without nausea, retching, disgust, or associated gastroenterological disorders. The food is then ejected from the mouth or reswallowed." The purpose of this report is to describe two cases of rumination that were benign, self-limited, and different from rumination previously described in the medical literature.

Case Reports

In the first case, an adopted 6-year-old boy developed a habit of regurgitating and reswallowing food in 1981.

The phenomenon began close to the time that his adoptive mother became pregnant. He exhibited no social or emotional problems and no other change in behavior, and he maintained his usual appetite and weight.

Routine growth and development examinations indicated that he was normal for his age before, during, and after the symptomatic period. He was referred for an upper gastrointestinal study, which was interpreted as normal. A pediatric gastroenterology consultant dismissed the phenomenon as benign. Rumination continued for about 6 months and disappeared when his brother was born.

The boy's adoptive parents underwent psychotherapy on an individual basis: the father for a mild anxiety disorder with depressive components; the mother for mild marital adjustment concerns. They also sought family counseling for issues involving their children. It was difficult to assess the relationship of parental and family emotional stress to the boy's rumination, with the exception of its relationship to his adoptive mother's first pregnancy. The 6-year-old in this case is now an adolescent in his last year of high school and has had no recurrence of rumination.

In the second case, a 5-1/2-year-old girl with a younger sister started "vomiting" and rechewing food in 1986. On close observation, it became clear that the vomitus was actually rechewed food, which the child alternately ejected or reswallowed. No other change in behavior, appetite, or weight was noted, and physicial examination was normal before, during, and after the symptomatic period. She was not depressed and did not exhibit any emotional or social problems.

[TABULAR DATA OMITTED]

Consultation with the same pediatric gastroenterologist who had been consulted in the adopted boy's case resulted in dietary advice and reassurance. Family adjustment and parenting issues were discussed during the office encounters, and a possible link with the 5-1/2-year-old's symptoms was suggested. The parents were invited for a brief course in couples' therapy with their family physician and family nurse involving exploration of the family environment and function.

Issues of parenting, borders, and peer rivalry were discussed. It soon became apparent that where the family lived, a relatively isolated co-operative village (kibbutz), may have been a factor in her symptoms. A plan to move temporarily to England, the mother's original homeland, was entertained and adopted. Some months after the symptoms had begun, they disappeared spontaneously. More than 6 years later, the family is still in England, and the girl is well and free of symptoms. The parents are also happier with their move and social environment.

Discussion

Although reports of rumination in humans were common until the early part of this century, this condition is now largely unfamiliar. Oser and Brockbank have emphasized its functional and familial nature,[12] and more recent literature has identified rumination associated with a variety of clinical problems[1-12] (Table).

Recent literature emphasizes the serious conditions associated with rumination. One remarkable exception describes a benign, habitual clinical syndrome of adults, adolescents, and children.[12] In this series, barium swallows radiography showed no abnormalities. Most patients had either a family or a personal history of psychiatric disorders, but none had any serious psychiatric problems. All had been ruminating for many years, except for one 24-year-old patient, who stopped after 18 months. Behavioral therapy to reduce rumination was successful in one patient. Most patients were satisfied with the reassurance that the habit was harmless.

Our two cases describe a self-limited disorder of mentally and emotionally normal children who do not seem to fall into any of these categories. The children were characterized by normal growth, development, and physical and laboratory examinations. In both cases, possible "reactive" components could be identified: natural pregnancy of an adoptive mother in the first case and a stressful social family situation in the second. In both cases, the symptoms disappeared without biomedical intervention. In the second case, a short course of family counseling with a supportive-directive focus was undertaken.

The two cases described in this report differ from those reported by Levine[12] in that the patients are younger and their ruminations are not "habitual." Thus, it is apparent that rumination exists in a wide range of ages from infancy to adulthood and is a broad spectrum of conditions, ranging from short, benign, and self-limited (as in our cases) to severe and life-threatening.

It is not surprising that there is debate regarding how rumination should be medically classified.[14] In the author's opinion, it merely reflects that each of these classifications contains only a partial account of the condition.

A growing interest in rumination is apparent in the recent medical literature. Physiologic studies in adults, which combine esophageal pH monitoring and manometry, electromyography of the abdominal wall, and monitoring of respiration, have established some facts about the phenomenon. Transient relaxation of the lower esophageal sphincter induced by voluntary abdominal-wall muscle contractions and increasing pressure is documented. It is hypothesized that patients learn to use neural pathways to induce transient lower esophageal relaxation by increasing pressure in the proximal stomach.[10,15-17] However, the pathophysiology is still not perfectly clear.

Treatment of rumination has ranged from parenteral nutrition, psychiatric treatment, behavioral conditioning, biofeedback, and counseling to simple reassurance.[5,8,9,12,17] These treatment modalities reflect an apparent strong belief in the behavioral origin of the rumination phenomenon.

We concur with Levine's assessment[12]: "Rumination is a benign process and can be diagnosed with confidence from a careful history. Investigations are unlikely to indicate upper gastrointestinal abnormalities unless other symptoms or signs are present. Most patients appear to be relieved when their problem is recognized and they are reassured that it is harmless." Yet this is a recommendation based only on a limited clinical observation.

We encourage primary care practitioners to report similar cases to us for the purpose of conducting an epidemiological study and developing a sound clinical approach to this unusual phenomenon.

References

[1.] Menking M, Wagnitz JG, Burton JJ, Coddington Rd, Sotos JF. Rumination-a near fatal psychiatric disease of infancy. N Engl J Med 1969; 280:802-4.

[2.] Sauvage D, Leddet I, Hameury L, Bartelemy C. Infantile rumination. J Am Acad Child Psychiatry 1985; 24:197-203.

[3.] Fleisher DR. Infant rumination syndrome. Am J Dis Child 1979; 133: 266-9.

[4.] Whithead WE, Drescher VM, Morrill-Corbin E, Cataldo MF. Rumination syndrome in children treated by increased holding. J Pediatr Gastroenterol Nutr 1985; 4:550-6.

[5.] Starin SP, Fugua RW. Rumination and vomiting in the developmentally disabled: a critical review of the behavioral, medical and psychiatric treatment research. Res Dev Disabil 1987; 8:575-605.

[6.] Sloan TB, Kaye CI. Rumination risk of aspiration of gastric contents in the Prader-Willi syndrome. Anesth Analg 1991; 73: 492-5.

[7.] Mayes SD, Humphrey FJ II, Handford A, Mitchell JF. Rumination disorder: differential diagnosis. J Am Acad Child Adolesc Psychiatry 1988; 27:300-2.

[8.] O'Neil PM, White JL, King CR, Carek DJ. Controlling childhood rumination through differential reinforcement of the other behavior. Behav Modif 1979; 3:355-72.

[9.] Isaacs JS, Davies BD, LaMontagne MJ. Transitioning the child fed by gastrostomy into school. J Am Diet Assoc 1990; 90:982-5.

[10.] Breumelhof R, Depla ACTM. The rumination syndrome in an adult patient. J Clin Gastroenterol 1990; 12:232-4.

[11.] Brown WR. Rumination in the adult. Gastroenterology 1968; 54:933-8.

[12.] Levine DF, Wingate DL, Pfeffer JM. Habitual rumination. A benign disorder. BMJ 1983; 287:255-6.

[13.] American Psychiatric Association. Diagnostic and statistical manual of mental disorders, third edition, revised. Washington, DC: American Psychiatric Association, 1987.

[14.] Parry-Jones B, Parry-Jones W II. Pica. Symptom of eating disorder? A historical assessment. Br J Psychiatry 1992; 160:341-54.

[15.] Smout AJ, Breumelhof R. Voluntary induction of transient lower esophageal sphincter relaxations in an adult patient with the rumination syndrome. Am J Gastroenterol 1990; 85:1621-5.

[16.] Gillion JM, Metman EH, Picon L, Dorval ED. Merycism ou reflux gastro-esophagien, place de la manometrie auto-duodenale. Gastroenterol Clin Biol 1991; 15(3):250-3.

[17.] Shay SS, Johnson LF, Wong RKH. Rumination, heartburn, and daytime gastroesophageal reflux. A case study with mechanisms defined and successfully treated with biofeedback therapy. J Clin Gastroenterol 1986; 8:115-26.

COPYRIGHT 1994 Dowden Health Media, Inc.
COPYRIGHT 2004 Gale Group

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