Congenital fibromatosis of the ileum

Congenital fibrous hamartoma is one of the rare congenital lesions occuring in the abdomen. We report a case of congenital fibromatosis of the small intestine in a boy who presented with a huge intra-abdominal mass. Problems associated with diagnosis are discussed with a review of the literature.     

A large infiltrating fibrous hamartoma of infancy in the abdominal wall with rare associated tuberous sclerosis

Tuberous sclerosis is a complex autosomal-dominant neurocutaneous syndrome characterized by hamartomatous malformations of fibrous and connective tissues in various organs. Although various histologic types of soft-tissue masses can occur with tuberous sclerosis, we present a unique case of fibrous hamartoma of infancy presenting as large infiltrating cutaneous and subcutaneous masses in the abdominal wall in a 4-year-old boy with tuberous sclerosis. Although the co-occurrence of tuberous sclerosis and fibrous hamartoma of infancy is very rare, it should be considered in the differential diagnosis of subcutaneous soft-tissue masses found in children with tuberous sclerosis.     

Juvenile (calcifying) aponeurotic fibroma of the neck

A case of juvenile (calcifying) aponeurotic fibroma (JAF) arising in the neck of a 5-year-old female is presented. The lesion was misdiagnosed as fibrous hamartoma of infancy (FHI) on a superficial biopsy prior to total excision of the mass. Only one instance of JAF of the neck has previously been reported; the tumor is usually located in the distal extremities and often recurs following excision. FHI occurs most frequently at and about the axilla and shoulder, and does not recur in most instances. Accepted: 14 January 1997     

Congenital fibrous hamartoma of the knee

A full-term male infant presented at birth with a hard swelling of the left knee. The lemon-sized lesion was fixed to the underlying knee muscles, while the overlying skin was stretched and shiny; there was no bruit. Radiography, sonography and MRI suggested a soft-tissue tumour. After surgical excision, histology showed the presence of fibrous and mesenchymal tissue, with mature adipose tissue. Fibrous hamartoma of infancy was diagnosed. Among soft-tissue tumours, fibrous hamartoma of infancy is a rare and benign lesion, occurring in the first 2 years of life. The tumour mainly affects the trunk, axilla, and upper extremities. This infant had unique involvement of the knee. The treatment of choice is local excision.     

A Case of Citrullinemia with Abnormal Messenger RNA for Argininosuccinate Synthetase

A male neonate, thus far healthy and fed with breast milk, developed rapidly increasing apathy on the third day of life. Sucking became poor and hyperhidrosis was present. Hyperammonemia (3,305 µg/dl) was noted. He became comatose and died on the fourth day. There was a profound derangement of amino acid concentration in the body fluids, with highly elevated citrulline levels (4.70 µmol/ml in serum and 8.47 µmol/ml in urine). Autopsy showed diffuse pulmonary bleeding, as the only noteworthy pathological finding. The liver contained no detectable argininosuccinate synthetase (ASS) activity. The defect of ASS in the present case was not due to a reduced amount of ASSmRNA, but its structure was found to be abnormal; it was approximately 1.57 kb in length due to a defect of about 0.1 kb near the 3' end of the coding region.     

A Case With the Infantile Type of Glycerol Kinase Deficiency

A male infant with the infantile type of glycerol kinase deficiency is described. At six years of age, he showed proximal dominant muscle atrophy and weakness, addisonian pigmentation and mental retardation. Laboratory investigations revealed muscular dystrophy, adrenal insufficiency and glycerol kinase deficiency. He has a small deletion in a band (Xp21) of the X chromosome. The clinical, biochemical and genetic findings in this patient are reported.     

Multiple coronary stenoses of unknown etiology

Summary The case of a 13-year-old girl with multiple coronary stenoses and abundant collaterals, but no risk factors, is described. She was not suspected of having ischemic heart disease until an abnormal electrocardiographic pattern was detected during a routine examination in school. All children with electrocardiographic abnormality should be carefully examined, even though they have neither symptoms nor coronary risk factors.     

Malignant Melanotic Neuroectodermal Tumor of Infancy: A Case Report

We present a case of melanotic neuroectodermal tumor in the maxilla that followed an aggressively malignant course. In the first biopsy the tumor showed a classical histological picture, while in the last biopsy only malignant undifferentiated cells were evident. The tumor recurred twice after excision, and in spite of radiotherapy and various chemotherapeutic measures the patient died within 16 months of onset. Similar cases reported in the literature are discussed.     

A Case of Atypical McCune-Albright Syndrome with Vaginal Bleeding

Background

McCune-Albright syndrome (MAS) is a rare non-inherited disorder characterized by the clinical triad of precocious puberty, cafe-au-lait skin lesions, and fibrous dysplasia of bone.

Case Presentation

We report a girl with MAS, presenting initially with vaginal bleeding at the age of 17 months. Ultrasonography revealed unilateral ovarian cysts and ureteral and ovarian enlargement. Considering the clinical and paraclinical findings, the patient diagnosed as a case of gonadotropin-independent precocious puberty was treated with medroxy-progestrone acetate (MPA) for three months. During the follow up, recurrent episodes of bleeding, ovarian activation and cyst formation, as well as breast size development were reported. At the age of 5.5 years, fibrous dysplasia was detected, which in coexistence with precocious puberty confirmed the diagnosis of MAS. The patient had no cafe-au-lait skin macles during follow up.

Conclusion

Considering that clinical manifestations of MAS appear later in the course of recurrent periods of ovarian activation and cyst formation, a careful clinical observation and follow up of patients is necessary and the diagnosis of MAS must be kept in mind in cases with gonadotropin-independent precocious puberty.     

Is There a Place for Chemotherapy in the Management of Recurrent Digital Fibrous Tumor of Childhood? A Case Report

The case of an 11-year-old boy suffering digital fibrous tumor of childhood with multiple recurrences is presented. The possible benefit of chemotherapy instead of a high-level amputation is discussed.