[Treatment of macroglossia due to acromegaly]. / Behandeling van macroglossie ten gevolge van acromegalie.

A 61-years-old woman had macroglossia due to acromegaly with complaints of dyspneu at a lying sleeping position and complaints of speech and dysphagia. At the age of 55 years she was diagnosed with acromegaly induced by a adenoma of the pituitary gland, which had been removed surgically. The treatment of macroglossia included tongue reduction, removal of the remaining mandibular teeth with severe periodontal attachment loss, huge reduction of the residual alveolar ridge, immediate implant insertion, fabrication of implant-supported overdentures, and logopedic treatment. The speech improved significantly and the patient could sleep again in a lying position. Clinically, acromegaly is diagnosed on clinical signs, such as the morphology and the protrusion of the tongue. Often, macroglossia is a secondary symptom of a systemic disease, needing causal treatment. If surgical reduction of the tongue is indicated, also enlargement of the oral cavity should be considered.

A neonate with an intact congenital umbilical appendix: an alternative theory on the etiology of the appendico-umbilical fistula.

Neonatal umbilical anomalies usually represent remains of the vitelline duct or the allantois. We describe a case of an umbilical appendix in a neonate. The vermiform appendix was found to be positioned in the umbilical cord. In a brief literature review we found eight other reports concerning umbilical appendices. In this article we describe a possible embryological explanation for the development of an umbilical appendix, and discuss whether or not the appendiceal umbilical fistulae reported are congenital or iatrogenic. The possible association between an umbilical appendix and different forms of malpositioning and rotation of the gut is also discussed. Protrusion of the neonatal appendix into the umbilical cord represents a different entity of congenital anomalies. It is important to realize that, in the case of an unrecognized umbilical appendix, medical procedures (e.g., canulation or clamping of the umbilicus) may produce an iatrogenic appendico-umbilical fistula. Careful inspection and palpation of the umbilical cord prior to these procedures may prevent a fistula being created. Furthermore, because the possible association between umbilical appendices and different kinds of malpositioning of the gut is so far not wholly elucidated, we recommend further (radiological) investigation in each case of an umbilical appendix. Correct positioning of the bowel needs to be confirmed in order to rule out possible future complications.

[A child with traumatic hemobilia]. / Een kind met traumatische hemobilie.

A 4-year-old boy was hit by a car travelling at 40 km/h and was admitted 3.5 h later to the department of paediatric surgery. Because he was haemodynamically unstable and needed blood transfusion, the patient underwent an emergency operation. The liver was ruptured in the right lobe. A large haematoma was found in the serosa of the duodenum, along with a Meckel's diverticle, which was left in place. The liver rupture was covered and sealed. One month after the accident the patient was re-admitted, because of abdominal pain and gastrointestinal bleeding. The cause was thought to be the Meckel's diverticle, which was removed later. Two months after the trauma the patient was re-admitted with abdominal pain, again with haematemesis and melaena. The diagnosis of hemobilia was obtained with MRI and angiography, which revealed a ruptured pseudoaneurysm of the ramus dexter of the proper hepatic artery. The patient was successfully treated with embolization. The diagnostic delay was two months, which illustrates the importance of considering the possibility of the diagnosis hemobilia in case of gastrointestinal haemorrhage combined with biliary symptoms.

[Acute appendicitis in children: serious complications when treatment is delayed]. / Appendicitis acuta bij kinderen: ernstige complicaties bij vertraging in de behandeling.

Three children, two boys aged 9 and 6 and a 12-year-old girl, had diffuse abdominal complaints, diarrhoea and a (sub)febrile temperature for several days. On admission, they were found to have a perforated inflamed appendix and peritonitis. Following asystole, intra-abdominal abscesses and an enterocutaneous fistula, the oldest boy showed good recovery after a hospital stay of two months; the girl recovered after one month in hospital following a psoas muscle abscess and two episodes of constrictive pericarditis with threatened tamponade. The younger boy was dead on arrival at the hospital. Appendicitis is not always easy to diagnose. An atypical presentation, very often with diarrhoea, can result in diagnostic delay. Early surgical consultation is mandatory in a child with progressive abdominal pain.

[Haemangiomas and congenital vascular malformations: their classification and diagnosis]. / Hemangiomen en congenitale vasculaire malformaties; classificatie en diagnostiek.

Mulliken and Glowacki's classification of peripheral blood- and lymph-vessel abnormalities is based on their clinical course and cellular characteristics, and is therefore clear to and readily usable by the practising physician. In order to make the diagnostic process more accessible, the Haemangiomas and Congenital Vascular Malformations Nijmegen working group has developed a system of diagnostic guidelines on the basis of this classification. The anamnesis should be directed at the following six distinguishing characteristics: presence of the anomaly at birth, growth, involution, change in volume, pain and outflow. The physical examination is directed at the following five characteristics: the possibility of emptying or pushing aside the anomaly, changes in volume during engorgement, murmur/'thrill'/pulsation, phleboliths, and hyper- or hypotrophy. If a diagnosis still cannot be made, then additional investigations may be carried out. Duplex scanning is usually sufficient for this purpose, after which the nature and extent of the malformation can be determined with MRI. On the basis of the results, the persons involved can be informed as to the prognosis of the malformation and a plan of treatment can be proposed.

Quality of life in patients with anorectal malformation or Hirschsprung's disease: development of a disease-specific questionnaire.

PURPOSE: Hirschsprung's disease and anorectal malformation are congenital diseases of the digestive tract with sequelae into adulthood. The quality of life of patients with these diseases is largely unknown. The aim of the study was 1) to construct a self-report disease-specific instrument to assess the quality of life in these patients and 2) to evaluate its psychometric performance. METHODS: An age-specific (6 and 7 years, 8-11 years, 12-16 years, and >17 years) questionnaire called the Hirschsprung's disease/anorectal malformation quality-of-life instrument was constructed. This questionnaire consists of 39 to 42 items, grouped into 10 to 11 scales that cover physical, emotional, and social functions as well as disease-related symptoms. Generic quality-of-life data were obtained in addition. A national sample of 715 patients aged six years and older completed the questionnaire (response rate, 61.9 percent). RESULTS: Multitrait scaling analyses confirmed the hypothesized scale structure with exception of the scales related to diet for the two youngest groups. Cronbach's alpha ranged (with exception of the diet scales) from 0.62 to 0.91 for children (8-11 years), from 0.69 to 0.82 for adolescents (12-16 years) and from 0.57 to 0.91 for adults. Selective scales were able to discriminate between subgroups of adult patients known to differ in disease and disease severity. Relevant scales of the adult version showed substantial correlations (> 0.40) with comparable scales of the SF-36. In the two youngest age groups the differences between subgroups of patients were less significant, but in the expected direction. CONCLUSIONS: With the exception of the scales related to diet, the Hirschsprung's disease/anorectal malformation quality-of-life instrument is an instrument with promising reliability and validity, to measure the disease-specific quality of life of patients with anorectal malformation or Hirschsprung's disease.

Residual lesions after Kasabach-Merritt phenomenon in 41 patients.

BACKGROUND: Kasabach-Merritt phenomenon (KMP) is the association of a vascular tumor and thrombocytopenic coagulopathy. Vascular tumors are either kaposiform hemangioendothelioma or tufted angioma but not "true" common hemangioma of infancy. There is a conspicuous absence in the literature regarding the late outcome and possible residual lesions after apparent clinical cure of KMP. OBJECTIVE: The purpose of the study was to analyze these residua in a large number of patients. METHODS: Clinical data on 41 patients who had KMP were accrued in an international cooperative study. The emphasis was on the residual lesions after resolution of the thrombocytopenia and other coagulation abnormalities. Imaging studies (follow-up magnetic resonance imaging studies available for 10 patients) and histologic specimens (30 specimens available for 26 patients, 18 biopsies done during the KMP and 12 concerning the sequelae) were reviewed. RESULTS: Residual lesions after "cure" of KMP were common. They exhibited 3 clinical patterns: type I lesions (n = 28) showed a cutaneous red stain, with or without associated red papules. The stain might overlap a minor fibrotic infiltration or a significant poorly delineated diffuse fibrotic infiltration. These cutaneous vascular lesions varied in size and appearance over time and were occasionally painful. Type II lesions were telangiectatic streaks and swelling (n = 5), and type III lesions showed a minor, firm, irregular, subcutaneous mass assessed by palpation or deep infiltration evidenced by computed tomography or magnetic resonance imaging (n = 8). A fourth feature was sequelae in muscles and/or joints. Histologically, tufted angioma was more common in the specimens from residual lesions, whereas kaposiform hemangioendothelioma was more common during the active phase of KMP. Imaging findings were remarkably reproducible and revealed a persistent vascular tumor. CONCLUSION: Residua of tumors associated with KMP are common after the resolution of thrombocytopenia and coagulopathy. They are (more or less) prominent dormant vascular tumors, not "scars" and, clinically as well as histologically, they differ markedly from involuted hemangioma.

Parenting children with anorectal malformations: implications and experiences.

Parents play a crucial role in the life of a child suffering from an anorectal malformation (ARM), since their guidance contributes to the degree to which the child learns to cope with his or her disability. We investigated whether they experience stress in parenting such a child and also attempted to identify somatic or behavioral characteristics in the child that influence the stress of parenting. The parents of 109 children (69 males, 40 females; median age 5.9 years, range 1-18 years) with an ARM (58 low, 10 intermediate, 41 high) were studied. The Nijmegen Questionnaire on Child-rearing Situations (NQCS) was used to investigate the existing parenting situation. Behavioral characteristics of the children were studied by means of the Child Behaviour Checklist (CBCL) and the Teacher Report Form (TRF). In a semi-structured interview, we investigated how parents experienced the implications of the disability in everyday life with their child. Our study showed that as far as the perception of parenting stress is concerned, parents of children with an ARM do not differ from those with healthy primary-school children. Within the group of parents with ARM-afflicted children, the parents of older, incontinent children experienced relatively more stress, especially when the child concerned was male. With regard to the children's behavior, the parents and teachers under investigation did not report a higher than normal incidence of deviant behavior. However, when individual parents observed difficult behavior in their child, they found it harder to deal with than the incontinence for feces. Regarding the implications of the disorder for their everyday lives, parents were concerned and indicated a need for specific counselling. We conclude that having a child with a somatic affliction, in this case an ARM, does not automatically imply that the parents experience child-rearing problems. However, certain groups of parents are more at risk, i.e., parents with older, incontinent sons and parents with children exhibiting behavioral problems. In addition, our study shows that parents do have difficulties in coping with the implications of the disorder and express a need for support. We feel that patient care can be improved if aid is tailored to these specific problems.

Infants with Kasabach-Merritt syndrome do not have "true" hemangiomas.

OBJECTIVE: In 1940 Kasabach and Merritt described an infant with a vascular anomaly, extensive purpura, and thrombocytopenia; they called his lesion "capillary hemangioma." Hemangioma is a benign tumor that grows in infancy and is characterized by proliferation of endothelial cells and regression during childhood. Although Kasabach-Merritt syndrome (KMS) is frequently mentioned as a possible complication of hemangioma, our experience suggests that the anatomic vascular lesion underlying the thrombocytopenia is not a "true," classic, involuting type of hemangioma of infancy and childhood. STUDY DESIGN: We reviewed the clinical and hemostasis data and the response to treatment in 22 cases of KMS, and we analyzed the biopsy specimens of 15 of them. RESULTS: Clinically none of the 22 patients had classic hemangioma. There was no female preponderance. All patients had severe thrombocytopenia (lowest platelet count = 3000/mm3) and consumption of fibrinogen. Histologically, none had the typical "capillary," involuting type of hemangioma of infancy: they exhibited either a tufted angioma or a kaposiform hemangioendothelioma pattern; all specimens also contained numerous abnormal lymphatic-like vessels; lymphatic malformation was the major component in two patients. The infants exhibited a heterogeneous response to a number of therapeutic regimens, as noted in other reports. Severe morbidity was present; three of our patients died, and one had leg amputation. "Residua" were, in fact, residual vascular neoplasia, variable in duration, and not a stable fibrofatty residuum, as in classic involuted hemangioma; only the hematologic phenomenon was "cured" after a period of years. CONCLUSIONS: KMS is a distinctive disease of infancy, but the underlying vascular lesion is not a "true," classic, involuting type of hemangioma of infancy. This is a different vascular tumor with a resemblance pathologically to either tufted angioma or kaposiform hemangioendothelioma in association with lymphatic-like vessels. Whether the underlying lesion in KMS is a single anatomic entity or heterogeneous cannot be definitely concluded from this study. We need a better understanding of the pathogenesis of KMS to improve our therapeutic management.

Adults born with high anorectal atresia--how do they manage?

PURPOSE: We are interested in the way patients, who underwent surgery for high anorectal atresia, control their defecation. Considering that some patients, despite newer operative techniques, always will suffer from minor or major soiling we attempted to find some guidelines for postoperative support for future patients. METHOD: Fifty-eight patients (median age, 26 (range, 18.1-56.9) years) were personally interviewed. RESULTS: Regulating defecation is done in five different modes: 16 patients have stools after urge, 15 control their stools mainly by going to the toilet at regular times, 18 perform bowel-irrigations or use enemas, 2 have loss of feces continuously, and 7 patients have an ileostomy or colostomy. More than one-half of patients influence their defecation by diet. Of the patients with anal defecation, 6 never soil, 39 sometimes soil small amounts, and 6 often soil seriously. Eighteen patients occasionally suffer from constipation. There is no mode of defecation regulation outstanding in preventing soiling or constipation. However, patients who do not regulate defecation somehow suffer from serious soiling. Most patients are content with their level of cleanliness. CONCLUSION: Irrespective of the mode of defecation regulation, many patients soil sometimes small amounts and a few often soil seriously. In view of the fact that most patients had to find the current control of defecation regulation by themselves rather late and lacked professional support, it is questionable whether the chosen mode of defecation regulation is the most optimal mode for each patient. We assume that a stepwise protocol under professional support, starting by the most natural mode of defecation, will improve defecation regulation in a more efficient way (earlier and better).

Additional congenital defects in anorectal malformations.

UNLABELLED: From 1974 until 1995 a total of 264 (141 male, 123 female) patients born with an anorectal malformation (ARM) were referred to the University Hospital Nijmegen in the Netherlands. All additional congenital defects (ACDs) were registered. Special attention was paid to whether the ACDs take part in associations, syndromes, or sequences. One or more ACDs were observed in 67% of the patients. In decreasing order the defects concerned the uro-genital tract (43%), skeleton (38%), gastrointestinal tract (24%), circulation (21%), extremities (16%), face (16%), central nervous system (15%), respiratory tract (5%), and remaining defects (5%). Associations were observed in 49% of the patients mostly (in 44%) the Vertebral, Anorectal, Cardial, Tracheo-Esophageal, Renal and Limb association. In 5% of the patients syndromes were recognized. Sequences were seen in 2% of the patients. Remarkable is the combination of trisomy 21 and ARM without a fistula. The combination of ARM and the Zellweger syndrome has not been reported before. CONCLUSION: Almost all combinations of ARM and ACDs can be classified as an association, syndrome or sequence. ARM-causing agents affect males and females in equal numbers but lead to different expression in the sexes. The origin of the Omphalocele, Extrophia of the bladder, Imperforate anus, Sacral anomalies complex probably differs from that of other forms of ARM.

Intestinal pseudo-obstruction syndrome in a child with myotonic dystrophy.

Gastrointestinal symptoms in myotonic dystrophy are increasingly observed, but major intestinal movement disorders such as intestinal pseudo-obstruction appear to be an infrequent complication. We describe a 13-year-old boy who, after appendectomy, developed intestinal pseudo-obstruction syndrome as the first clinical manifestation of myotonic dystrophy. He developed several similar episodes thereafter, which responded to conservative measures. When a child with myotonic dystrophy presents with an ileus, the diagnosis of intestinal pseudo-obstruction should be considered and therapy should then be conservative.

Vascular malformations: a review of 10 years' management in a university hospital.

In order to gain insight into the management of patients with vascular malformations (VM) in the University Hospital Nijmegen in the past 10 years, 151 cases managed by different specialists were reviewed. To avoid the usual confusion in terminology, all recorded diagnoses were reclassified according to the biological classification of Mulliken. The sex distribution was equal; 79% of the malformations were diagnosed at birth or in the 1st year of life. The median time between presentation and consultation was 3 years. Sixty-two lymphatic, 26 venous, 24 capillary, 1 arterial, and 38 combined malformations (8 arteriovenous, 30 others) were found. The head and neck region was most frequently involved, followed by the lower and upper limbs and trunk. The pediatric surgeon was the most frequently consulted specialist. Confusing, mutually incompatible terminology and a wide variety of different diagnostic techniques and treatments had been used by the different specialists. To improve the management of patients with vascular malformations, the use of a uniform classification, an increase in basic investigations, and the development and evaluation of protocols for diagnosis and treatment by multidisciplinary teams are necessary.

Surgical treatment of hemangiomas and vascular malformations in functional areas.

Hemangiomas and vascular malformations (VM) in functional areas can be treated by a variety of methods. Because of the natural involution of hemangiomas, a non-agressive approach is recommended. Active therapy is necessary only in cases where a function is affected such as vision, respiration, hearing, and feeding. Psychological problems can be an indication for early excision, and psychological/cosmetic reasons in the presence of fibrofatty tissue residues when the hemangioma has been involuted for late excision. In contrast to hemangiomas, no involution is to be expected for VMs, so that therapy depends mainly on the occurrence of functional problems and/or serious complications. Surgical excision still has a place, however, the indications are limited.

Quality of life after operatively corrected high anorectal malformation: a long-term follow-up study of patients aged 18 years and older.

Fifty-eight patients (median age, 26.0 years; range, 18.1 to 56.9 years) with an operatively corrected high anorectal malformation were evaluated by questionnaire. No patient had normal continence for feces; however, 84% had a socially acceptable defecation pattern. The quality of life (QOL) and general and mental health perception of these patients were evaluated. For social functioning and health perception, items from the medical outcome study (MOS) were used. QOL and health perception were compared with those of the general population. Most aspects of QOL (corrected for age and gender) and mental health did not differ from those of the general population. However, the patient population had lower educational and general health levels (P < .01). Twelve percent felt restricted socially by their handicap, and 24% never had a lasting relationship. Of the patients who had a lasting relationship, 43% noted that the handicap had been disturbing in the relationship. Associated anomalies had no influence on QOL and health perception. QOL, education level, and relationships were affected by fecal incontinence. It is possible that more appropriate psychosocial support, eg, addressing the implications of the handicap on everyday life, would have a positive influence.

Are adults content or continent after repair for high anal atresia? A long-term follow-up study in patients 18 years of age and older.

OBJECTIVE: This study investigated the current state of fecal and urinary continence in an extensive group of adults after operative correction for high anorectal malformations and how they cope with their incontinence. SUMMARY BACKGROUND DATA: Normal fecal continence is hardly to be expected after correction for high anorectal malformation; despite this, it is commonly accepted that for most patients fecal continence improves with growing age and that most adult patients have no problems. Until now, however, few long-term follow-up studies in small groups of adults have been performed to assess continence after operative repair for high anorectal malformation. METHODS: Fifty-eight adult patients (median age, 26.0 years; range, 18.1 to 56.9 years) with an operatively corrected high anorectal malformation were evaluated by questionnaire with respect to their current state of fecal and urinary continence and mode of control of defecation. RESULTS: Seven patients have a permanent ileostoma or colostoma. Of the 51 patients with anal defecation, 61% control defecation by themselves, whereas 35% control defecation by using enemas or bowel irrigations, and 4% do not have any control at all. Besides medical therapy, 65% take dietary measures to influence defecation. According to existing scoring methods, 41% reached good and 49% fair control of defecation, whereas only 10% had poor control. Current control of defecation was reached from a median age of 15.0 years (range, 5 to 31 years). CONCLUSION: Conclusively, the authors can say that after correction for high anorectal malformation nobody reached normal fecal continence. Most patients with anal defecation reached good and fair control of defecation, however. Of all 58 patients, 84% are satisfied with their level of cleanliness.