Crossed renal ectopia with fusion in a pelvic inlet area, atypical portal vein and coccygeal deformation in a young female cat.

BACKGROUND: The case report describes a rare congenital anomaly, crossed fused renal ectopia (CFRE), with coexistence of two other abnormalities - atypical portal vein and coccygeal vertebrae malformation in a domestic cat. The concomitance of those 3 congenital defects has not been described previously. CASE PRESENTATION: An 8-month-old female, domestic cat suffering from chronic diarrhea was referred to the diagnostic imaging unit. The patient showed no other clinical symptoms. An abdominal ultrasonographic examination was performed in order to evaluate the condition of abdominal organs, particularly the gastrointestinal tract. The ultrasound examination showed an ectopic duplex kidney at instead of kidneys in their typical location. Computed tomography (CT) with angiographic phase and excretory urography was requested to evaluate the condition of the kidneys and ureters. The final diagnosis was CFRE, atypical portal vein and coccygeal deformation in an asymptomatic cat with no changes in renal function and normal blood parameters. CONCLUSIONS: Crossed fused renal ectopia is a rare congenital anomaly and is easily detectable by an abdominal ultrasonographic examination and CT, which allows more complete assessment of both anatomical relations and secretory function of the kidney. The occurrence of CFRE, abnormal portal vein and spinal malformation in a clinically healthy patient is the evidence that congenital malformations may simultaneously involve various, not directly related structures and systems, without significant influence on blood and urine parameters. Thus the most useful tool in the evaluation of the morphological and functional changes is the diagnostic imaging, especially contrast enhanced CT. Our results show that renal fusions should be considered in the differential diagnosis of caudal abdominal masses.

Caudal Regression Syndrome (Spinal Thoraco-lumbo-sacro-coccygeal Agenesis).

This is a case report of a 2-year-old male who presented with walking disability and sphincter incontinence since birth. His mother has diabetes mellitus. The patient had a normal mental function, and his lower extremities were hypoplastic and akinetic. Spinal neuroimaging investigations revealed agenesis of the spinal column below T9 vertebral level with abrupt termination of the spinal cord at the T6 vertebral level. With this severe caudal regression syndrome (CauReS), cardiac, anorectal, urologic, and orthopedic consultations were made looking for other potential associated malformations. Unfortunately, no neurosurgical indication was suggested. CauReS is a rare congenital disorder in which there is abnormal fetal development of the lower spine and hypoplasia of the lower extremities. Neurosurgically, there are no clear guidelines to follow for patients with CauReS. Sometimes, surgical spinal cord untethering may be indicated in some selected patients to improve neurologic function.

Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.

KBG syndrome is characterized by short stature, distinctive facial features, and developmental/cognitive delay and is caused by mutations in ANKRD11, one of the ankyrin repeat-containing cofactors. After the advent of whole exome sequencing, the number of clinical reports with KBG diagnosis has increased, leading to a revision of the phenotypic spectrum associated with this syndrome. Here, we report a female child showing clinical features of the KBG syndrome in addition to a caudal appendage at the coccyx with prominent skin fold and a peculiar calcaneus malformation. Exons and exon-intron junctions targeted resequencing of SH3PXD2B and MASP1 genes, known to be associated with prominent coccyx, gave negative outcome, whereas sequencing of ANKRD11 whose mutations matched the KBG phenotype of the proband showed a de novo heterozygous frameshift variant c.4528_4529delCC in exon 9 of ANKRD11. This report contributes to expand the knowledge of the clinical features of KBG syndrome and highlights the need to search for vertebral anomalies and suspect this condition in the presence of a prominent, elongated coccyx.

Enigmatic human tails: A review of their history, embryology, classification, and clinical manifestations.

The presence of a human tail is a rare and intriguing phenomenon. While cases have been reported in the literature, confusion remains with respect to the proper classification, definition, and treatment methods. We review the literature concerning this anatomical derailment. We also consider the importance of excluding underlying congenital anomalies in these patients to prevent neurological deficits and other abnormal manifestations.

Familial pseudotail, scoliosis and synpolydactyly syndrome.

PURPOSE: This case series describes a novel condition characterized by familial pseudotail associated with scoliosis, and synpolydactyly that has not been previously reported in literature. METHODS: The authors present three siblings and one cousin from the same family living in the northern region of the Arabian Peninsula. All cases presented with pseudotail, scoliosis, and complex synpolydactyly. The authors demonstrated complete clinical and radiological descriptions in addition the detailed performed surgeries. RESULTS: The histopathological result of the resected pseudotail specimens revealed bony lesion covered with thick fibrous tissue and evidence of mature adipocytes within trabecular spaces. CONCLUSIONS: The described cases represent a novel condition that has not been previously reported in the literature. Familial pseudotail scoliosis synpolydactyly syndrome is a newly recognized form of familial pseudotail.

Classification and analysis of fifth pair of sacral foramina in indian dry sacra / Clasificación y análisis del quinto par de forámenes en huesos sacros secos de indios

A sacrum with five pairs of foramina is an anatomical variant resulting from sacralisation of lumbar vertebra at cranial end or sacralisation of coccyx vertebra at caudal end. An unusual gross variation nurtures interest of anatomists and causes concern for clinicians when it mimics pathology. A sacrum with fifth anomalous pair of sacral foramina has been observed which prompted the author to examine the available sacra in the osteology lab of Department of Anatomy KG Medical University Lucknow, UP, India. Of the total sixty six observed sacra, those with five pairs of sacral foramina due to sacralisation of lumbar vertebra were found in eleven cases (16.6%) while those due to sacralisation of coccygeal vertebra were observed in nine cases (13.6%). These sacralisations were classified in five categories to systematise the anatomical study, causes and clinical complications. Sacralisation of lumbar vertebra may compress the fifth sacral nerve causing sciatica and back pain. It may also cause herniation of disc above sacralisation. Sacralisation of coccygeal vertebra may influence the caudal block anaesthesia in surgical procedures and also results in prolonged second stage of labor and perineal tears.

Un sacro con cinco pares de forámenes es una variante anatómica que resulta de la sacralización de la vértebra lumbar al extremo craneal o sacralización de la vértebra coxis al extremo caudal. Esta variación inusual es de interés para los anatomistas como también motivo de preocupación para los médicos al asemejar una patología. Un sacro con un quinto par anómalo de forámenes fue observado, por lo que se examinaron otros sacros del laboratorio de osteología del Departamento de Anatomía Médica de la Universidad de Lucknow, India. De un total de 66 sacros estudiados, en 11 casos (16,6%) se observaron cinco pares de forámenes sacros, debido a la sacralización de la vértebra lumbar; mientras que en 9 casos (13,6%), se observó la sacralización de la vértebra caudal. Estos fueron clasificados en cinco categorías para sistematizar el estudio anatómico, sus causas y complicaciones clínicas. La sacralización de la vértebra lumbar puede comprimir el quinto nervio, causando ciática sacra y dolor de espalda. También puede causar una hernia discal superior a la sacralización. La sacralización de la vértebra caudal, puede influir en la anestesia de bloqueo caudal en procedimientos quirúrgicos y también dar lugar a una prolongada etapa del trabajo de parto y desgarros perineales.

VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association: disease spectrum in 25 patients ascertained for their upper limb involvement.

OBJECTIVE: To review the clinical characteristics in a series of 25 patients with VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association who were ascertained for upper limb involvement. STUDY DESIGN: The study involved a review of clinical and radiologic data from patients with VACTERL association collected by a hand surgery clinic between 2004 and 2013. RESULTS: Radial axis involvement was found in all 25 patients (100%), with severe thumb function impairment in 79% and complete absence of the radius in roughly 33%. Costovertebral anomalies were the most frequent feature, found in 23 patients (92%). All 3 core features (anal atresia, tracheoesophageal fistula with esophageal atresia, and costovertebral anomalies) were present in only 12% of the patients. Twelve patients (48%) had abnormalities not part of the VACTERL spectrum, showing a specific pattern of non-VACTERL-type malformations, including genitourinary abnormalities (12%), single umbilical artery (8%), and tethered cord (8%). Previously unreported clinical findings were concurrent hypoplasia of both the odontoid process and the coccyx in 2 patients and an isolated sacral dimple in 2 patients. CONCLUSION: Upper limb involvement in VACTERL association is a specific feature of the radial axis that occurs in monolateral form in approximately 75% of cases and, when bilateral, always occurs in a nonsymmetrical fashion. Odontoid and coccygeal hypoplasia and sacral dimple are newly reported malformations of the VACTERL phenotype.

Three patients resembling Teebi-Shaltout syndrome.

Teebi-Shaltout syndrome (TSS) was first reported by Teebi and Shaltout in 1989. This entity is proposed to be inherited in autosomal recessive manner. The clinical features include characteristic facial features, ectodermal dysplasia, camptodactyly, and caudal appendage. Only one additional paper reporting four additional cases has been published since the first description. Clinical features common to all previously affected individuals diagnosed with TSS are craniofacial, orodental-ectodermal, and skeletal. This report summarizes and discusses the findings of three additional patients from two unrelated families with findings similar to TSS. These findings may be present in a genetically and phenotypically heterogeneous group of disorders similar to TSS. Presence of consanguinity and similarly affected siblings of both genders suggests autosomal recessive inheritance.

Evaluation of coccygeal bone variability, intercoccygeal and lumbo-sacral angles in asymptomatic patients in multislice computed tomography.

The coccyx is a highly variable structure in the human caudal spine. Previous studies have revealed a significant correlation between coccyx shape and the pain syndrome coccygodynia. The aim of this study was to carry out a complex morphological evaluation of the coccyx in a group of asymptomatic patients of different sex and age examined by multislice computed tomography (MSCT) of the pelvis for different clinical reasons. MSCT pelvis examinations from various nontraumatic clinical conditions from consecutive adult patients (250 males and 250 females of comparable age, mean 54.9 ± 14.8 years) were used. Based on middle sagittal plane reconstructions: coccyx configuration (types I-IV according to Postacchini and Massobrio classification, each successive type characterized by a more pronounced anterior position of coccyx), number of segments, length and angles (intercoccygeal and lumbo-sacral) were measured. The results obtained were analyzed statistically. The following types of coccyx were observed in the study group: type I in 16.2 %, type II 40.0 %, type III 32.4 %, and type IV 11.4 % cases. In most cases (50.8 %), three segments were noted. Lumbo-sacral angle varied from 15.6° to 66.4° (average 41.6° ± 7.7°), and intercoccygeal angle from 0° to 107° (average 51° ± 23.3°). A significant negative correlation between age and number of segments as well as age and intercoccygeal angle was observed. In males, the coccyx was significantly longer, while in females the intercoccygeal angle was significantly wider. Type I was significantly more frequent in males, while type IV was found more often in females. The results obtained differ from other results in the literature. Our research could be useful to determine population standards, and help (together with clinical history) future studies of associations between idiopathic coccygodynia and coccyx morphology.

Magnetic resonance imaging findings in the painful adult coccyx.

OBJECTIVE: Imaging of the painful coccyx currently relies on standard and dynamic radiography. There are no literature data on MRI of the coccyx. This examination could provide information on the cause of pain. METHODS: 172 patients with severe chronic coccydynia underwent MRI and dynamic radiography of the coccyx. RESULTS: Disc abnormalities (seen in 70 patients) were related to either the presence of intradiscal liquid effusion (17/70), or abnormality of the endplates similar to Modic 1 changes (38/70), or uncertain abnormalities (15/70). Abnormalities of the tip of the coccyx (seen in 41 patients) were located in the surrounding soft tissues: venous dilatations (18/41), soft tissue inflammation (13/41) and ambiguous images (9/41). Vertebral bone oedema was observed in five cases and a benign tumour was observed once. The type of imaging feature depend broadly on the mobility of the coccyx: the 105 cases with a mobile coccyx mainly presented abnormal features mainly in a disc (63 cases vs. 4 cases for the tip), whereas the 67 patients with a rigid coccyx mainly showed abnormal features at the tip (37 cases vs. 7 for the joints, p < 0.001). CONCLUSIONS: We recommend MRI of the painful coccyx when dynamic radiography fails to reveal clearly a pathological lesion (i.e., normal or slightly increased mobility of the coccyx or a rigid coccyx lacking a spicule).

A tale of pseudo tail.

STUDY DESIGN: A case report. OBJECTIVE: To report on an interesting case of a symptomatic human pseudo tail in a 7-year-old girl, who had a lordotic deformity of the coccyx due to partial segmentation. SUMMARY OF BACKGROUND DATA: Caudal appendages are uncommon congenital malformations classified into two categories, true tails and pseudo tails, usually treated by surgical resection. Protrusion of the coccygeal vertebrae is considered the most common cause of pseudo tail. METHODS: Summary of the surgical management, as well as an x-ray film of the coccyx 8 years postoperatively, is presented. RESULTS: Total resection of the coccyx was successfully performed and all preoperative complaints of the patient were resolved shortly after the surgery. Follow-up 8 years later revealed regrowth of a small coccygeal bone, in normal alignment. CONCLUSION: Segmentation failure of the coccyx vertebrae may lead to an abnormal position of the coccyx that may interfere with daily life and therefore require coccygectomy. A newly developed coccygeal bone, in normal alignment, may be present at site after several years.

Coexistence of a human tail and congenital dermal sinus associated with lumbosacral lipoma.

CASE REPORT: We present a female baby with a human tail associated with congenital dermal sinus (CDS) at the caudal site of the tail. Magnetic resonance (MR) images with constructive interference in steady-state (CISS) sequencing clearly demonstrated a lumbosacral lipoma of caudal type, contiguous with the dermal sinus tract and not with the human tail. At 3 months old, the tail was surgically removed. The dermal sinus tract and contiguous lipoma were also resected, and untethering of the spinal cord was performed. Although both the human tail and CDS are frequently associated with spina bifida occulta, coexistence of the tail and CDS is exceedingly rare. CISS-MRI is useful for demonstrating the precise anatomical relationship between these complicated pathologies.

Anorectal malformation and spinal dysraphism: the value of diffusion-weighted imaging in detecting associated intradural (epi)dermoid cyst.

Anorectal malformations (ARMs) are associated with a variety of spinal dysraphisms, of which clinical impact is often underestimated. A 6-year-old girl, with a history of rectovaginal fistula, presented with gait disturbance, asthenia, and worsening of fecal incontinence. The spinal magnetic resonance imaging (MRI) at 12 months of age had revealed a tethered cord and a little intradural lipoma. Within the lipoma, a small cystic lesion, interpreted as a cerebrospinal fluid (CSF)-filled loculation, was also described. A consecutive MRI showed a marked increase in size of the CSF-like cyst that was clearly hyperintense on diffusion-weighted imaging (DWI) and presented reduced apparent diffusion coefficient values (855 +/- 109 s/mm(2)), not compatible with CSF values. This lesion, interpreted as an (epi)dermoid cyst, was removed and histologically confirmed; the spinal cord was untethered. The child's lower limb motor deficit resolved rapidly after surgery, and the fecal incontinence slowly returned to the previous bowel habit. There is a growing interest in recognizing and defining spinal dysraphism in ARM patients because some abnormalities may carry severe clinical consequences. For this purpose, a standardized MR protocol is required, in which DWI plays a pivotal role to disclose associated dysembriogenetic lesions, in particular when a CSF loculation is detected.

[Caudal regression syndrome - caudal agenesis]. / Kaudales Regressionssyndrom - kaudale Agenesie.

BACKGROUND: Neural tube defects are caused by complex genetic and environmental factors. The congenital anomaly most specific to pregnant women with diabetes mellitus is caudal regression syndrome. PATIENT: A 4-year-old boy with a history of mild delay in motor development presented with primary enuresis and encopresis. On physical examination, he had no sensory and motor deficits, but a short anal cleft. On questioning, the mother reported insulin-dependent diabetes mellitus during pregnancy. MRI of the spinal cord demonstrated a thoracic syringomyelia, a dysplastic conus medullaris, and an absence of coccyx and distal sacrum, called caudal regression syndrome or caudal agenesis. CONCLUSION: The caudal regression syndrome refers to sacral agenesis associated with spinal cord anomalies, e.g. syringomyelia. Sacral agenesis is marked by total absence of the coccyx and total or distal absence of the sacrum. An abnormal backside combined with a history of maternal diabetes mellitus in pregnancy is highly suggestive for the presence of caudal regression syndrome.