Spigelian-cryptorchidism syndrome: a case report and discussion of the basic elements in a possibly new congenital syndrome

Pediatric cases of Spigelian hernias are rare. Only a few reports on this condition, in combination with ipsilateral cryptorchidism and testis in the hernia sac, have been published. We report on Spigelian hernia in a 3-week-old boy containing both the ipsilateral testis, without a gubernaculum and an incarcerated loop of the small intestine. It has been suggested that the combination of Spigelian hernia and ipsilateral cryptorchidism is part of a new syndrome. We discuss whether the lack of a gubernaculum and an inguinal canal reported in other similar cases may be additional elements of this new syndrome. We present a comprehensive overview of pediatric patients with Spigelian-cryptorchidism syndrome reported in the English language literature. In 75% of male infants with Spigelian hernia, there is an associated ipsilateral cryptorchidism, and in 87% of these patients, the testis is found inside the hernia sac. Thus, the surgeon dealing with a congenital Spigelian hernia should look for an undescended testis and be prepared to find it in the hernia sac.     

Spigelian hernia in childhood

Spigelian hernia is rare at any age, and exceedingly so in childhood. Three cases encountered in a paediatric surgical practice in 16 years are reported. A Spigelian hernia is a ventral interstitial herniation through a defect in the aponeurosis of the transversus abdominis muscle (the Spigelian fascia) adjacent to the rectus abdominis. It presents as a mass, usually tender, in the semilunar line, most commonly at the level of the arcuate line below the umbilicus. Strangulation can occur and repair is advised. The site of the hernia is difficult to recognise under anaesthesia. Pre-operative localisation and marking is advised.     

Pre-operative sonographic diagnosis of incarcerated neonatal Spigelian hernia containing the testis

BACKGROUND: Spigelian hernia (SH) is a ventral hernia that occurs along the semilunar line formed by the fibrous union of the rectus sheath and the anterior abdominal wall muscles, usually containing small bowel segments, omental fat or both. Spigelian hernias are rare in adults and exceedingly rare in children. A few case reports describing SH in the paediatric population have been published and an association with cryptorchidism has been very rarely reported. OBJECTIVE: To report three examples of SH. RESULTS: We describe three examples of SH containing incarcerated testis in two neonates. These were diagnosed preoperatively with US. Ultrasound-guided reduction of the hernia contents was performed successfully in one case. CONCLUSIONS: Ultrasound plays an important role in the diagnosis and management of these hernias.     

Strangulated low Spigelian hernia in children: report of two cases

Low Spigelian hernia (LSH) in children is considered an extreme surgical rarity. This clinically deceptive hernia is difficult to diagnose preoperatively and has a real risk of strangulation. Strangulated LSH may be misdiagnosed as strangulated inguinal hernia. Early recognition and timely surgical repair are important to avoid strangulation.     

The treatment of Spigelian hernia in children

An 11-year-old girl with a Spigelian, i.e., spontaneous lateral ventral hernia, is reported. This rare entity has been previously described in only nine children. Five of them had true Spigelian hernias, in which surgery was the treatment of choice. Four hernias were the consequence of trauma, in which cases surgery could be delayed because spontaneous closure eventually occurred. Correspondence to: L. Siplovich     

Congenital Spigelian hernia associated with undescended testis

Background

A Spigelian hernia (SH) is a ventral interstitial hernia through a defect in the Spigelian fascia; an undescended testis is sometimes associated with this clinical entity in male newborns. The etiopathogenesis, surgical anatomy, diagnostic methods, and treatment for this rare condition are discussed with a review of the literature.

Methods

A 20-day-old newborn was admitted to our hospital for a swelling in the right lower abdomen and undescended testis. Physical examination of the abdomen and scrotum revealed a congenital SH associated with cryptorchidism.

Results

Herniotomy, herniorrhaphy, and orchidopexy were performed. In the post-operative period, scrotal abscess occurred and was drained. After drainage, the fixed testis was found to be atrophic.

Conclusions

This association may be a distinct clinical syndrome. The operation time in cases of neonatal SH with undescended testis should be well planned because of probable surgical complications such as vascular damage, tension, or compression.     

A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents

We report a hitherto unknown, lethal osteochondrodysplasia in two Japanese siblings born to consanguineous parents. The skeletal abnormalities are characterised by mesomelic brachymelia with bowed forearms, a round pelvis with shortened greater sciatic notches, an ossification defect of the pubic bones, and absence of ossification centers in the cervical vertebral bodies. The associated visceral anomalies comprised periportal fibrosis and cystic dysplasia of the intrahepatic bile ducts, pancreatic ductal ectasia, a simple renal cyst, microcephaly with multifocal laminar necrosis and ectopic gray matter, dysplastic tracheobronchial cartilage, abnormal lobulation of the lung, diaphragmatic hernia, and stenotic pulmonary valve. Thrombocytopenia was present but megakaryocytes were slightly increased in the bone marrow. The patients showed various dysmorphic features including aniridia, a long palpebral fissure, prominent nasal bridge, beaked nose, flat philtrum, low-set fleshy ears, micrognathia with submucosal cleft palate, and multiple joint contractures. Received: 23 May 1997 Accepted: 27 June 1997     

Associated malformations in Morgagni hernia

Morgagni hernia (MH) is a congenital herniation of the abdominal organs through the subcostosternal portion of the diaphragm. It is a rare type of diaphragmatic hernia that has been associated with other congenital anomalies. The purpose of this clinical review was to determine the incidence of associated anomalies in patients with MH at a major pediatric referral center. The medical records of all patients with the diagnosis of MH were reviewed retrospectively between 1983 and 2006. The age, sex, side of herniation, presenting symptoms and signs, associated anomalies, radiologic features, intraoperative findings, postoperative course, complications, and mortality were recorded. There were 11 males and 5 females. The average age of the patients was 34.5 months (range 2 months–14 years). Twelve patients (75%) had at least one associated congenital malformation and eight (66.6%) of them had multiple anomalies. Six (37.5%) patients had a chromosomal anomaly, Down’s syndrome in five and Turner syndrome in one. MH has a high incidence of associated congenital malformations.     

Jarcho-Levin syndrome presenting with diaphragmatic hernia.

Jarcho-Levin syndrome (spondylothoracic or spondylocostal dysostosis) is an eponym that is used to define individuals with a short neck, short trunk, and short stature and multiple vertebral anomalies. The prognosis is directly related to respiratory complications. Reported findings associated with Jarcho-Levin syndrome include congenital heart defects, abdominal wall malformations, genitourinary malformations, upper limb anomalies, and neural tube defects. We report on a 6-day-old girl who presented with an incomplete form of Jarcho-Levin syndrome with late-presenting congenital diaphragmatic hernia and congenital heart disease.     

Noonan's Syndrome in Association with Acute Leukemia

Noonan's syndrome (NS) is a syndrome with multiple congenital anomalies, characterized by craniofacial anomalies, congenital heart disease, skeletal and genital abnormalities, and mild mental retardation. Chromosomal abnormalities have been found in only a few cases. The combination of NS and acute leukemia has been reported in only three cases. Two additional cases are described here.     

Two male patients with nevoid basal cell carcinoma syndrome from Turkey.

Nevoid basal cell carcinoma syndrome, also known as Gorlin's syndrome, is a familial autosomal dominant syndrome characterized by multiple basal cell carcinomas, multiple odontogenic keratocysts of the jaws, and skeletal anomalies. Both tumors and malformations of the central nervous system occur with nevoid basal cell carcinoma. Medulloblastoma is the primary brain tumor most frequently associated with this syndrome. The authors report in this article two male patients with nevoid basal cell carcinoma syndrome: a 22-year-old male patient with multiple odontogenic keratocysts, who had medulloblastoma at two years and multiple basal cell carcinoma at 10 years of age, and a 15-year-old male patient with skeletal abnormalities and multiple odontogenic keratocysts in the jaws.     

Editorial: Early Discharge in Febrile Neutropenia

Noonan's syndrome (NS) is a syndrome with multiple congenital anomalies, characterized by craniofacial anomalies, congenital heart disease, skeletal and genital abnormalities, and mild mental retardation. Chromosomal abnormalities have been found in only a few cases. The combination of NS and acute leukemia has been reported in only three cases. Two additional cases are described here.     

Prenatal prediction of pulmonary hypoplasia

Pulmonary hypoplasia, although rare, is associated with significant neonatal morbidity and mortality. Conditions associated with pulmonary hypoplasia include those which limit normal thoracic capacity or movement, including skeletal dysplasias and abdominal wall defects; those with mass effect, including congenital diaphragmatic hernia and pleural effusions; and those with decreased amniotic fluid, including preterm, premature rupture of membranes, and genitourinary anomalies. The ability to predict severe pulmonary hypoplasia prenatally aids in family counseling, as well as obstetric and neonatal management. The objective of this review is to outline the imaging techniques that are widely used prenatally to assess pulmonary hypoplasia and to discuss the limitations of these methods.     

Right-sided diaphragmatic hernia masquerading as staphylococcal pneumonia

A 9-month-old infant who was diagnosed to have right-sided diaphragmatic hernia with no other associated anomalies, is being reported here. He had presented with cough for one month and respiratory difficulty for one-week duration and history of bilious vomiting two days prior to admission. His chest X-ray showed multiple lucent shadows in the right lower zone in A-P and lateral views, with not very well defined diaphragm on the same side. A diagnosis of staphylococcal pneumonia was considered but with clinical and radiological picture, a right-sided diaphragmatic hernia was strongly suspected which was confirmed by doing fluoroscopy and CT-scan of the chest. He underwent a successful correction of the defect. So radiological finding of pleural effusion with displacement of mediastinum to the left and the presence of bowel gas high in the right upper quadrant should alert the possibility of a right-sided Bochdalek hernia.     

Multiple skeletal anomalies in the “13q-” syndrome

A patient with the 13q- syndrome is reported. The typical association of congenital malformations was found. Multiple and unusual skeletal anomalies included absent thumbs, club-feet, coxa vara, diastasis of the pubic symphisis and extensive spina bifida occulta. These appear to be part of the multiple system involvement due to the chromosomal deletion. Chromosome analysis is indicated in patients with multiple skeletal anomalies, especially if the thumbs and radial axis are involved.(affiliated with the Hebrew University and Hadassah Medical School)     

Short stature,mental retardation,craniosynostosis, Klippel-Feil syndrome,Scheuerman kyphosis,rib gaps and other distinctive skeletal and genital anomalies

A 12-year-old girl with a syndrome of short stature, mental retardation and multiple, distinctive skeletal anomalies such as craniosynostosis, hamate-capitate fusion, first rib gaps, Klippel-Feil anomaly and Scheuerman-like kyphosis is reported.     

The familial form of atrial septal defect

Background: The secundum atrial septal defect accounts for 10% of congenital heart disease. Familial occurrence is rare and may present as an isolated lesion or with conduction and skeletal abnormalities. Predisposing genes were described.
Objectives: To evaluate familial defect's prevalence and associated anomalies and assess the yield of screening.
Methods: Family history, physical, electrocardiographic and echocardiographic evaluation of 286 ASD patients and families regarding heart disease, conduction and skeletal anomalies were performed.
Results: Eleven new families with familial defects were identified yielding 28 patients. The rate of transmission was 40–100%, suggestive of autosomal dominant inheritance. Parents were healthy in four families with multiple offspring with ASDs. Two families had ASDs with atrioventricular conduction abnormalities in five of six subjects, not requiring pacing. One subject had skeletal malformation. Ten patients had surgery, 12 had transcatheter ASD closure and six await treatment.
Conclusions: In view of the high prevalence of familial occurrence of secundum ASD (10% of all ASD patients), we recommend screening all first degree relatives of ASD patients for cardiac, conduction and skeletal anomalies. Although a routine genetic investigation is not yet available, genetic patterns of inheritance may be compatible with autosomal dominant inheritance. Healthy parents of affected offspring may suggest a variable gene penetrance or past spontaneous ASD closure. Conduction anomalies may be present or may develop throughout life, and thus should be periodically screened for.     

Inguinal ovary as a rare diagnostic sign of Mayer-Rokitansky-Küster-Hauser syndrome

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare syndrome characterized by complete or partial agenesis of the uterus and vagina, due to a congenital defect of the Mullerian duct. Affected individuals have a 46,XX karyotype and a normal female phenotype. MRKH syndrome may be isolated (type I MRKH syndrome) or associated with renal, cardiac, and skeletal anomalies, short stature, and auditory defects. The latter is defined as type II MRKH syndrome or the Müllerian duct aplasia/hypoplasia, renal agenesis/ectopy, and cervicothoracic somite dysplasia (MURCS) association. The majority of patients with MRKH syndrome present with primary amenorrhea. We report a case of type II MRKH syndrome who has been referred by a pediatric surgeon for detection of gonadal function. During an inguinal hernia operation, the left ovary had been observed in the hernia sac. Clinical and radiological evaluation of the patient showed an absence of the uterus and left kidney, and cervical hemi vertebra. Based on these findings, the patient was diagnosed as having type II MRKH syndrome.     

Postmortem Findings and Clinicopathological Correlation in Congenital Diaphragmatic Hernia

Congenital diaphragmatic hernia (CDH) is a severe life-threatening disease, with an incidence of 3 per 10,000 births, that can occur as an isolated defect or in combination with other congenital anomalies. We reviewed the clinical and autopsy reports of 39 subjects with CDH that were autopsied between 1988 and 2001 to determine whether autopsy had an additional value in the detection of malformations in patients with CDH. We compared the clinical data (including echographic results in some patients) concerning congenital anomalies with the autopsy results. Before autopsy, 6 structural cardiac defects, 3 anomalies of the urogenital system, and 3 anomalies of the digestive tract were observed in 10 patients (clinical and echographic results). However, with postmortem examination, only 4 structural cardiac defects were confirmed, 2 cases showed another cardiac anomaly, and 7 new cardiac defects were found. In the urogenital system, 1 anomaly was confirmed, 1 was not confirmed, and 1 showed another malformation. In addition, in 7 patients new urogenital malformations were found after autopsy. In the digestive tract, all 3 malformations were confirmed, but we found 3 new malformations after postmortem examination. All clinically established dysmorphic features and anomalies of the skeletal system and central nervous system were confirmed by autopsy, and no additional malformations were found. We concluded that postmortem examination has an important additional role in the detection of structural cardiac defects and malformations of the urogenital system and digestive tract in children with CDH.Marieke F. van Dooren and Natascha N.T. Goemaere both contributed equally to this article.     

Congenital diaphragmatic hernia and chromosomal abnormalities: report of a lethal association

Congenital diaphragmatic hernia carries a high mortality which is often the consequence of associated anomalies. A chromosomal abnormality of the long arm of chromosome 8 resulted in a fatal combination of anomalies associated with CDH.