Congenital epulis: prenatal diagnosis by ultrasound

We present a case of congenital epulis, diagnosed prenatally with US. Congenital epulis is a benign gingival tumour whose differential diagnosis includes other oral-facial masses such as haemangioma, granular cell myoblastoma and cystic hygroma. This tumour can cause obstruction of the airway or feeding problems in the newborn child. Surgical excision is the treatment of choice. Received: 8 May 2000 Accepted: 15 October 2000     

Pyogenic granuloma presenting as a congenital epulis

OBJECTIVE: To describe a clinical approach to the differential diagnosis of oral lesions in neonates. DESIGN: Case report. SETTING: Academic ambulatory care center. PARTICIPANTS: Male infant. RESULTS: A gingival mass in a male infant appeared clinically consistent with a congenital epulis. Following excision and histologic examination, the diagnosis was determined to be a pyogenic granuloma. Careful attention to alternative diagnoses led to the correct etiology. CONCLUSIONS: Primary care pediatricians encounter neonatal oral lesions infrequently. The most common oral lesions in the newborn period are Epstein pearls and Bohn nodules. This case illustrates the importance of formulating a more extensive differential diagnosis on discovery of a neonatal oral mass.     

Spontaneous regression of congenital epulis of the newborn.

An infant with congenital gingival epulis which spontaneously regressed over the first year of life is reported. A policy of conservative management should be adopted in this condition unless there are feeding problems in the newborn period or reasons to doubt the diagnosis.     

Obstructive congenital multiple epulis. A case report in a male neonate]

Congenital epulis or congenital gingival cell tumour is a rare tumour in the neonate. It arises from the gingival mucosa. This benign condition can be life threatening when obstructive. In this report, a case of a male neonate, with features of obstructive congenital epulis arising from both maxillary and mandibular alveolar ridge, interfering with breast-feeding is described. Diagnosis was suspected clinically and confirmed by histology. Outcome was good after prompt surgery.     

Pulmonary arteriovenous fistula in the newborn: a case report of Rendu-Osler-Weber syndrome and a review of the literature.

In most instances, congenital arteriovenous fistula is only one manifestation of a more widespread abnormality; 60% of patients also have hereditary hemorrhagic telangiectasis (Rendu-Osler-Weber syndrome). Among those with congenital pulmonary arteriovenous fistula, the diagnosis is made during infancy in only 15% of patients. We present a case of pulmonary arteriovenous fistula in a newborn and review the literature. This rare condition of newborns can be treated with different surgical procedures. Only 17 cases of newborn pulmonary arteriovenous fistula/have been reported, and only two of those had associated Rendu-Osler-Weber syndrome. The results of surgical procedures were good in most of these cases. We treated our case with lobectomy successfully.     

Monozygotic Twins Concordant for Congenital Neuroblastoma: Case Report and Review of the Literature

To date, five sets of monozygotic twins concordant for neuroblastoma have appeared in the literature. Review of the clinical information available for these cases suggests that they represent congenital, versus acquired, diseases in both twins from each twin pair. The question arises, then, whether some or all sets of twins represent simultaneous-onset malignancy of both twins within a twin pair or whether metastasis via placental anastomoses from one twin with congenital disease to the cotwin occurs. This report includes a sixth set of monozygotic twins concordant for congenital neuroblastoma. From analysis of the clinical data from all cases, it appears that two of six twin pairs may represent simultaneous-onset tumors in each twin from a twin pair, and two of the remaining four twin pairs, including the present case, may represent placental metastases from one twin with congenital neuroblastoma to the other. In the remaining two twin pairs insufficient data are available upon which to draw any conclusions. Now that molecular and genetic methodology is available to characterize neuroblastomas, these techniques may be utilized in future cases of monozygotic twins concordant for congenital neuroblastoma, to help clarify whether the neoplasms represent simultaneous primary tumors versus metastatic spread from one twin to another.     

Unusual cause of intestinal invagination: congenital polypoid-form gastric heterotopia. Study of a case and review of the literature

The authors report a case of polypoid heterotopic gastric mucosa in the ileum presenting as intussusception with hypochromic anemia in a 6 year-old boy. Tumorous heterotopic gastric mucosa in the small bowel is very uncommon. So far 22 similar cases have been published in the literature. This congenital intestinal anomaly is discovered in one third of the cases during the first decade. In 9 of 23 cases gastric heterotopia was diagnosed after an ileal resection for intussusception induced by the heterotopia presenting as a pedunculated or sessile polyp. In our case the great number of the polypoid formations is exceptional and has not been previously described.     

Exploring the differential diagnosis of hemorrhagic vesicopustules in a newborn

Hemorrhagic vesicles in a newborn present a challenging differential diagnosis including both infectious and neoplastic disorders. Patients should be evaluated in an efficient manner to arrive at the correct diagnosis as quickly as possible. We present here an interesting case that outlines the methodical workup that ultimately revealed the diagnosis of congenital Langerhans cell histiocytosis. After a diagnosis of Langerhans cell histiocytosis is made, it is important to evaluate the patient thoroughly for systemic involvement. Historically, the diagnosis of congenital self-healing Langerhans cell histiocytosis was used to delineate a benign self-limited disorder limited to the skin with spontaneous resolution during the first several months of life; this disorder may also be referred to as "self-regressive Langerhans cell histiocytosis." However, some newborns with initial skin-only Langerhans cell histiocytosis progress to have multisystem disease after spontaneous resolution has occurred. For this reason, the nomenclature is changing. We suggest using the term "skin-only Langerhans cell histiocytosis." Periodic long-term follow-up is recommended to monitor for relapse or progression to systemic disease.     

Spontaneous regression of lung metastasis from osteosarcoma: a case report

A case of spontaneous regression of a pulmonary metastasis from high-grade osteosarcoma is reported. The metastasis developed 5 years after chemotherapy and amputation for a distal femur osteosarcoma. The sarcomatous nature of the lesion was histologically confirmed. No treatment was attempted owing to the patient's refusal. The patient was followed up every 3 months and a spontaneous regression of the lesion was documented. Seven years after the diagnosis of lung metastases, no pulmonary nodules or other signs of relapse are present.     

Spontaneous remission in congenital leukemia is not related to (mosaic) trisomy 21: case presentation and literature review

Congenital leukemia is seldomly diagnosed. Cases should be differentiated from transient leukemoid reaction, which is noted in Down syndrome. Outcome in congenital leukemia is poor, but spontaneous remissions have been described. The authors report on a female neonate with myeloid leukemia of the skin; no blood and bone marrow involvement was noted. Constitutional 47,XX,+21 was excluded. In situ hybridization on a paraffin-embedded skin biopsy sample did not show trisomy 21 in the leukemia lesions. No antileukemia therapy was given. During follow-up, small nodules (diameter up to 3 mm) on the soles of both feet came and went over a 3-month period. The child is now 3.5 years old and well. To date, 18 cases of congenital leukemia showing spontaneous remission have been described in the literature, almost exclusively myeloid leukemia (FAB M4 and M5). Congenital leukemia confined to the skin was described in only 4 cases. On follow-up, 6 cases relapsed; only one of them initially had skin involvement only. The data from this patient and literature indicate that cytostatic treatment should start only if the malignancy interferes with vital parameters. In case of relapse or progression, initial postponement of chemotherapy in these frail neonates will result in less toxicity and probably a better survival.     

Fetal arrhythmias: Intrauterine diagnosis,treatment and prognosis

Fetal echocardiography can provide useful information for the evaluation of fetal arrhythmias. Between 1980 and 1993, 44 fetuses with arrhythmias were diagnosed in utero at 12 and 40 weeks of gestation in Kurume University Hospital. Fetal bradycardia, tachycardia and ectopic beats were revealed in 17, seven and 20 fetuses, respectively, and their clinical features and prognosis were evaluated. In the 17 fetuses with bradycardia, eight were associated with congenital heart defect, and six of these developed to fetal hydrops. Of the 17 fetuses, four died in utero, one was terminated, and six died after birth. The other six cases survived. Three of these had a pacemaker implanted after birth. In the seven fetuses with tachycardia, transplacental anti-arrhythmic drugs were administered in five cases and conversion of the arrhythmia was achieved in four. None of the cases was associated with any congenital heart defect, and none died. Three infants had paroxysmal tachycardia postnatally. In the 20 fetuses with ectopic beats, arrhythmia was observed postnatally in 10, but all of these were resolved within 3 months after birth. Fetal bradycardias carried a poor prognosis in most cases and further studies are required to establish effective treatment. Some cases of fetal tachycardia developed recurrent tachycardia postnatally. Close follow-up of the newborn is therefore necessary.     

Oculo-cerebro-cutaneous syndrome: description of a new case

A newborn girl is described with the following multiple congenital anomalies: an orbital cyst, cutaneous appendages, focal hypo-aplasia of the skin and multiple cerebral cysts. This case of oculo-cerebro-cutaneous syndrome is compared with four previously published cases.     

Newborn with sebaceous nevus of jadassohn presenting as exophytic scalp lesion

It is essential that various factors be considered when determining the differential diagnosis of congenital scalp lesions, including lesion size, appearance, intracranial extension, underlying medical condition and the embryological germ layer involved. We present the case of a newborn diagnosed as having a sebaceous nevus of Jadassohn scalp lesion. While a common congenital lesion, we describe the unusual presentation at birth as an exophytic nodular lesion. To our knowledge only one other case report of an exophytic congenital lesion has been published.     

Sudden unexpected child deaths: forensic autopsy results in cases of sudden deaths during a 5-year period

The aim of the present study was to determine the incidence of various causes of sudden unexpected child deaths (SUCD) and to assess the importance of an autopsy in predicting the likelihood of finding a cause of death. A retrospective analysis of autopsy findings in 97 cases of SUCD between the ages of 0--11 years was undertaken at the Council of Forensic Medicine, Ankara during a 5-year period (1995--2000). Cases were classified as explained causes (80.42 per cent) and sudden infant death syndrome (SIDS) (19.58 per cent). A total of 25.77 per cent of the deaths occurred in the neonatal period, 45.31 per cent of them in the first year of life and the remaining 28.86 per cent after 1 year of life. The causes of neonatal deaths were respiratory pathology (five cases), birth complications (four cases), gastrointestinal pathology (one case), homicide (10 cases), and SIDS (five cases). The incidence of SIDS in the newborn period was 33 per cent. The incidence of unexplained causes of deaths in the postneonatal period was 31 per cent and the causes of deaths were respiratory pathology (15 cases), aspiration (five cases), gastrointestinal pathology (four cases), SIDS (14 cases), and other causes (four cases). The study of an entire population provides more reliable data regarding causes of sudden unexpected child deaths than does the study of small groups and it is also recommended that in addition to a through evaluation, a detailed autopsy must be performed for each case in experienced centers.     

Population-based case-control study of oxoline acid use during pregnancy for birth outcomes

The objective of the study was to check the effect of oxoline acid, a bactericidal drug for the treatment of urinary tract infection during pregnancy, on congenital abnormalities of informative offspring and fetal development. Human data of oxoline acid use during pregnancy have not been reported, but the use of this quinolone derivative is not recommended during pregnancy by the US Food and Drug Administration. The teratogenic and fetotoxic potential of oxoline acid was evaluated in the population-based large data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities between 1980 and 1996. Observed and expected numbers of congenital abnormalities were compared in the newborn infants and fetus of case mothers with oxoline acid treatment. In addition, gestational age and birthweight were evaluated in control newborn infants born to mothers with or without oxoline acid treatment. Of 38,151 newborn infants without any congenital abnormalities (control group), 13 (0.03%) had mothers who were treated with oxoline acid, while of 22,843 cases with congenital abnormalities, five (0.02%) had mothers who were treated with oxoline acid during pregnancy (POR with 95% CI: 0.6, 0.2-1.8). The comparison of observed and expected number of different congenital abnormalities did not show the teratogenic potential of oxoline acid. There was a 0.9 weak shorter gestational age without a smaller birthweight in the newborn infants born to mothers with oxoline acid treatment. Our data did not indicate teratogenic and fetotoxic effect of oxoline acid, however, the number of cases and controls was limited.     

The hypotonic infant: case study of central core disease

Causes of hypotonia in the newborn can be broadly categorized into two classifications. Hypotonia with a supraspinal origin may be seen with systemic disease, hypoxic ischemic encephalopathy, cerebral malformations, syndromes (for example: Down, Prader-Willi, Lowe, Zellweger, Smith-Lemli-Opitz), and c-spine injury. Disorders of the motor unit that present with hypotonia in the newborn period include SMA, congenital myotonic dystrophy, congenital myasthenia gravis, and congenital myopathies. Central core disease is one of the classic congenital myopathies that can be differentiated based on characteristic histologic findings. Muscle fiber samples from patients with central core disease possess distinct morphology that can be diagnostic. Many infants may not exhibit muscle weakness in the newborn period, although there have been rare cases of profound hypotonia and respiratory failure. Clearly, muscle biopsy is the gold standard and is indicated for any infant with marked hypotonia that is not thought to be supraspinal in origin.     

Metastasizing Cervical Teratoma of the Fetus

We present one case with a metastasizing cervical teratoma in a newborn infant who died of respiratory failure due to extensive cervical tumor masses and multiple pulmonary tumor metastases. This case provides evidence that very rarely malignant behavior may occur in congenital cervical teratomas, the prenatal diagnosis of which may be important for any further therapeutic management.     

The high scrotal (“gliding”) testis revised

BACKGROUND: At present, the high scrotal testis is considered a distinct and separate entity of undescended testis. OBJECTIVES: The aim of this study was to assess whether high scrotal testis is actually either a congenital- or acquired-undescended testis. DISCUSSION: In 527 consecutive boys (aged 0.4 to 16.5 years, mean 7.5) referred for non-scrotal testis, the number of high scrotal testis was prospectively determined. According to previous testis position, the high scrotal testis was classified into congenital- and acquired-high scrotal testis. In congenital-high scrotal testis orchidopexy was performed whereas spontaneous descent at puberty was awaited in acquired-high scrotal testis. In 210 testes, the gonad was diagnosed as high scrotal. In six testes the condition was congenital and 204 testes were diagnosed as acquired. All cases of congenital-high scrotal testis were treated surgically. In 100 acquired-high scrotal testis follow-up was performed. Of these, 75 testes descended spontaneously at puberty. CONCLUSION: We propose that the high scrotal testis should be regarded, not as a distinct and separate entity, but as a part of the spectrum of either congenital-undescended testis or acquired-undescended testis. Since spontaneous descent can occur at puberty in acquired-high scrotal testis, therapy may be different between both forms.     

Décalottage ou circoncision : quelle indication dans le phimosis ?

Phimosis remains a major question for mothers and induces a high number of consultations. However, large epidemiologic series have shown that congenital phimosis may disappear spontaneously in around 80% of cases with development and should'nt need any treatment before the age of five or six years old. Theses elements go against sociocultural habits which induce many circumcisions before the age of six. Corticoid treatment of phimosis seems to be very efficient to facilitate the disparition of phimosis. The aim of this literature review is to evaluate medical, socioeconomical and therapeutics aspects of phimosis. Based on these data, we recommend never to treat phimosis before the age of one year old, to wait as long as possible for spontaneous evolution of phimosis until the age of five years old, and, in case of non evolution of congenital phimosis or pathologic phimosis to use as first step treatment corticoid topics rather than surgical treatment.