Farber disease (FD) is a rare lysosomal storage disorder that shows autosomal recessive inheritance. We report the case of a 58-month-old girl with FD, who was misdiagnosed with epithelioid hemangioendothelioma. The patient had undergone five surgeries for sacrococcygeal masses and three surgeries for scalp masses owing to misdiagnosis. Here, we describe this rare case of FD.

The purposes of this study was to describe the clinical correlation of mass size and gestational age, prognostic factors in sacrococcygeal teratoma (SCT) at a tertiary pediatric surgery, University of Ulsan College of Medicine and Asan Medical Center (AMC), Seoul, Korea. Fifty five patients admitted to the AMC with a SCT between May 1989 and April 2013 were included in this retrospective review. Mean follow up was 861 days. Mean maternal age at delivery was 30 ± 2.7 year, mean gestational age (GA) was 36.9 ± 3.6wks, and preterm delivery was 21.8%. Birth body weight was 3182 ± 644 g and male vs. female ratio was 1:2.05. We can't find significant difference between Caesarean section and maternal age at delivery (p = 0.817). But, caesarean section was favored by gestational age (p = 0.002), larger tumor size (p = 0.029) or higher tumor weight fraction rate to birth body weight (p = 0.024). Type I was 13, II 21, III 17, and IV 3 according to Altman et al. classification. The tumor component was predominantly cystic(>50%) in 73.1%. And the majority histological classification of tumors were mature teratoma (70.3%). The motality rate was 5.5%. Three patients expired because of postpartum bleeding, post-op bleeding related complication such as DIC. SCT recurred in four patients. The interval between first and second operation was 206.2 ± 111.0 d (range 53~325 d). In two patients, serum AFP levels were elevated at a regular checkup without any symptom, and subsequent imaging studies revealed SCT. The most common cause of death was bleeding and bleeding related complication. So Caesarean section and active peripartum and perioperative management will be needed for huge solid SCT. In the case of Yolk sac tumor or huge immature teratoma, possibility of recurrence have to be always considered, so follow up by serial AFP and MRI is important for SCT management.

The sacrococcygeal region is the frequent site for meningocele, congenital dermal sinus and pilonidal cyst. From May 1995 to July 1998, we have treated 8 neonatal patients with an abscess in the sacrococcygeal area. The mean age at onset was 8.3 days with a range from 6 to 11 days. The sex ratio was 5:3 with male preponderance. Mild fever was the only systemic symptom. Ultrasonogram revealed a slightly hypo echoic lesion in the subcutaneous tissue which became more hypoechoic with time. Pus cultures showed Staph. aureus in 7 patients, two of them had mixed infection with E. coli and other 2 had methicillin-resistant Staph. aureus. The remaining one patient had a mixed infection with Klebsiella and Proteus. Histopathological examination revealed non-specific granuloma and fibrinoid necrotic debris. All patients were easily treated by incision, drainage and proper antibiotics.

Pediatric surgeons are familiar with the posterior sagittal approach to the rectum at sacrococcygeal area and well oriented with the anatomy because of the Penal procedure for imperforate anus. The author utilized the posterior vertical elliptical incisions in 12 cases of sacrococcygeal teratoma since 1987. For presacral tumor(type IV)², the incision was exactly same as the posterior sagittal procedure for imperforate anus. But the out-growing(type I) or dumbbell-shaped(type II & III) tumors, a vertical elliptical incision was required. For the laterally deviated tumors, a vertical and half-chevron incision was utilized in one case, but an unbalanced vertical elliptical incision was acceptable for the remaining two cases, with shrinkage of the overlying skin. In dumbbell-shaped tumors(type II & III), the narrow waist of the tumor was at the level of the levator muscle, which formed a muscle-belt on the tumor waist. A careful dissection to save the muscle-belt seemed to be the most important point during this procedure, utilizing the nerve-stimulator. After complete removal of the tumor and the coccyx, the levator muscles and the skin were closed in vertical fashion along the midline. For the caudally extending tumors in 3 cases, the muscle complex was divided in midline. Nothing by mouth and total parenteral nutrition was maintained for 1 week and then laxatives were given for 2 weeks in order to give the sphincters rest. Operative scars were acceptable resembling natural vertical midline folds, and the sphincter function was continent in all cases. In conclusion, vertical elliptical incision in sacrococcygeal teratoma is recommended because of the acceptable scar, functional restoration, and because it is a familiar procedure particularly for the pediatric surgeons who are accustomed performing posterior sagittal approach for imperforate anus.