ABSTRACT
BACKGROUND: Neonatal ascites is a rare entity, which is usually biliary, urinary, or chylous. Congenital hepatic fibrosis as part of the manifestations of autosomal recessive polycystic kidney disease (ARPKD) is usually a histological adjunct to the diagnosis of this mainly clinically renal entity in the neonatal period. Case-diagnosis: We describe a rare case of severe ascites in a newborn child complicating ARPKD, which was later confirmed by clinical, histological, and genetic studies. CONCLUSION: ARPKD should be considered in differential diagnosis of neonatal ascites.
Subject(s)
Ascites/etiology , Polycystic Kidney, Autosomal Recessive/complications , Ascites/diagnosis , Ascites/therapy , Biopsy , Child , DNA Mutational Analysis , Diagnosis, Differential , Female , Genetic Diseases, Inborn , Genetic Predisposition to Disease , Humans , Infant , Infant, Newborn , Liver Cirrhosis , Liver Diseases/complications , Liver Diseases/diagnosis , Liver Diseases/genetics , Liver Diseases/therapy , Mutation , Phenotype , Polycystic Kidney, Autosomal Recessive/diagnosis , Polycystic Kidney, Autosomal Recessive/genetics , Polycystic Kidney, Autosomal Recessive/therapy , Predictive Value of Tests , Receptors, Cell Surface/genetics , Risk Factors , Severity of Illness Index , Treatment OutcomeABSTRACT
A 28-year-old women is presented who was evaluated for a new-onset postpartum nephrotic syndrome with normal renal function. Histological diagnosis was AA amyloidosis but no underlying disease has been diagnosed despite extensive workup. Complete remission was achieved with colchicine. Upon discontinuation of colchicines, the patient's nephrotic syndrome flared up but completely responded to reinstitution of colchicine therapy. Remission of this patient's nephrotic syndrome is thus not attributable to resolution of any "idiopathic" primary disease.
Subject(s)
Amyloidosis/drug therapy , Colchicine/therapeutic use , Nephrotic Syndrome/drug therapy , Serum Amyloid A Protein/metabolism , Adult , Amyloidosis/metabolism , Amyloidosis/pathology , Colchicine/administration & dosage , Diagnosis, Differential , Female , Humans , Nephrotic Syndrome/metabolism , Nephrotic Syndrome/pathology , Postpartum Period , Pregnancy , Treatment OutcomeSubject(s)
Hirschsprung Disease/diagnosis , Intestines/diagnostic imaging , Intestines/embryology , Ultrasonography, Prenatal/methods , Adult , Dilatation, Pathologic/diagnosis , Dilatation, Pathologic/surgery , Female , Fetal Diseases/diagnosis , Follow-Up Studies , Gestational Age , Humans , Infant, Newborn , Intestinal Obstruction/diagnosis , Intestinal Obstruction/surgery , Intestine, Small/diagnostic imaging , Intestine, Small/embryology , Intestine, Small/surgery , Intestines/surgery , Pregnancy , Rare Diseases , Severity of Illness IndexABSTRACT
Placental ALP (ALP(h)) is a membrane-anchored, heat-stable enzyme produced by the syncytiotrophoblast. We report a case of a patient presenting in the third trimester with extreme increased levels of ALP(h). A 40-year-old woman, gravida 2, para 1, was admitted to the high risk pregnancy unit at 30 weeks of gestation for evaluation of an incidental finding of marked isolated elevation in serum ALP(h). Blood tests obtained at admission revealed a marked elevation of serum ALP level up to 1,194 u/l (reference 35-104 u/l). At 36 weeks of gestation, the patient was admitted with preterm premature rupture of membranes. Due to breech presentation, a cesarean delivery was performed. An immunoperoxidase stain was done for placental alkaline phosphatase, which was positive in the majority of chorionic trophoblastic cells. No evidence of inflammation was detected in the placental chorionic plate. Thus, isolated elevation in placental ALP may be linked to a subsequent preterm delivery.
Subject(s)
Alkaline Phosphatase/analysis , Fetal Membranes, Premature Rupture/blood , Placenta/chemistry , Premature Birth/blood , Adult , Alkaline Phosphatase/blood , Female , Humans , Pregnancy , Pregnancy Trimester, ThirdABSTRACT
PURPOSE: To report a rare case of congenital histiocytosis in a newborn without skin involvement. DESIGN: Interventional case-report. METHODS: A full-term baby presented with a mass over the palpebral conjunctiva of his left upper lid. Ophthalmic examination was otherwise normal, and the baby was healthy. There were no skin lesions. RESULTS: The lesion was completely removed surgically. Pathologic examination demonstrated a cellular infiltrate composed of eosinophils and histiocytes. Immunohistochemistry disclosed positive stain for protein S-100 and CD1 antigenic determinant. Pediatric oncology evaluation was completely normal. Eighteen months after presentation, the patient remained healthy without recurrence of the lesion. CONCLUSIONS: Rare cases of congenital histiocytosis can present as a solitary lesion over the palpebral conjunctiva, without skin or systemic involvement.
Subject(s)
Conjunctival Diseases/congenital , Histiocytosis/congenital , Antigens, CD1/metabolism , Biomarkers/metabolism , Conjunctiva/metabolism , Conjunctiva/pathology , Conjunctival Diseases/diagnostic imaging , Conjunctival Diseases/surgery , Histiocytosis/diagnostic imaging , Histiocytosis/surgery , Humans , Immunohistochemistry , Infant, Newborn , Male , S100 Proteins/metabolism , Tomography, X-Ray ComputedABSTRACT
Histiocytosis of childhood is characterized by localized or generalized proliferation of cells of the mononuclear phagocyte system and the dendritic cell system. In patients with Langerhans cell histiocytosis, the orbit is the most involved site encountered in ophthalmic practice, usually as a lytic lesion in the zygomaticofrontal suture. Patients usually present with acute or chronic periorbital swelling. Electron microscopic findings of Birbeck granules and positive staining for CD1 antigenic determinant confirm the diagnosis.
Subject(s)
Eye Diseases/etiology , Histiocytosis, Langerhans-Cell/complications , Histiocytosis, Langerhans-Cell/diagnosis , Humans , Orbital Diseases/etiology , Orbital Diseases/therapy , PrognosisABSTRACT
PURPOSE: To report a case of Langerhans cell histiocytosis presenting as periorbital cellulitis. DESIGN: Interventional case report. METHODS: A 3-year-old girl presented with periorbital swelling of the right upper lid laterally of two days' duration. A history of recent eye trauma was reported. RESULTS: Computed tomography showed a soft tissue mass that eroded the frontozygomatic suture. The lesion was debulked through a lateral orbitotomy. Electron microscopy disclosed Birbeck granules. Immunohistochemistry stained positively for CD68 and CD1a antigenic determinants. CONCLUSIONS: Although rare, Langerhans cell histiocytosis can cause acute periorbital cellulitis in children. Trauma can induce an inflammatory response, allowing for earlier diagnosis of the orbital lesion.