Ichthyosis Linearis Circumfiexa (ILC) is a rarely seen autosomal recessive keratinization disorder and is characterized by erythematous, polycystic, plaques with 'double-edged' scales. Its histological features resemble psoriasis. A triad of ichthyosis (usually Ichthyosis Linearis Circumfiexa), trichorrhexis invaginata (a distinctive hair shaft disorder) and atopy is named as Netherton syndrome. Herein, we report a 12 year-old girl presenting with ILC not accompanied with typical atopy findings and hair shaft disorder.
Hydrops fetalis is a severe clinical feature characterized by abnormal fluid accumulation in at least two body compartments and subcutaneous edema (7). Edema is usually in the fetal subcutaneous tissue, and vary from mild to generalized types. Even there may be a massive edema that can be enough to cause the extremities to remain in the extension position (2). Hydrops can sometimes result in miscarriage or the baby may be lost in the intrauterine period, (11). The most common type is non-immune hydrops. Chromosomal, cardiovascular, thoracic and infectious causes are among the most frequent causes of non-immune hydrops (7).Herein we present a case with Down syndrome who developed massive hydrops fetalis due to liver hamartoma and transient myeloproliferative disorder in the antenatal period.A baby, born with caesarean section at the 38th weeks of pregnancy as the 3rd alive baby of the mother's 3rd pregnancy, with a birth weight of 3320 grams, was intubated and has been resuscitated due to the lack of spontaneous respiration and heartbeat. The patient was transferred to neonatal intensive care unit (NICU) after resuscitation. APGAR scores at 1st and 5,h minutes were 2 and 4, respectively. The baby was mechanically ventilated in the NICU. On physical examination, massive edema, toughened cutaneous and subcutaneous tissues was present. The limbs were in the extension position due to this extensive edema. In addition, there was tachypnea and, hepatosplenomegaly (5-6 cm under the arcus costarium). The baby had the clinical features of Down syndrome, which was antenatally diagnosed. Chromosomal analysis showed 47, XY, +21 (trisomy 21). Laboratory evaluation revealed anemia, hypoalbuminemia, hyperuricemia and prolonged coagulation panel. Therefore albumin infusion and allopurinol treatment were started. The patient was transfused with erythrocyte suspension because of anemia and administered vitamin K and fresh frozen plasma therapy because of prolonged coagulation test results. Rasburicase therapy was given due to continuous elevation of uric acid levels. Peritoneal dialysis was administered since the urea and creatinine levels increased. The blast cells in the peripheral blood smear examination were considered to be associated with transient myeloproliferative disorder. Flow cytometry analysis revealed acute myeloblastic leukemia (AML), M7. Abdominal ultrasound showed a liver hamartoma 4X3.5 cm in size. Enlargement of the right cavities, pulmonary hypertension, severe tricuspid valve regurgitation, pulmonary insufficiency (3rd grade), mitral regurgitation (3rd grade), and aortic regurgitation (3rd grade) were observed by echocardiography. Because the patient had pulmonary hypertension, sildenafil treatment was first started, but was changed to iNO. In the following period the patient had hypotension and heart failure, so dopamine infusion was started. The newborn's general condition got worse progressively in the following period and he died on the fourth day of hospitalization.Non-immune hydrops is the most common type of hydrops fetalis, and has a quite high mortality (11). Different incidence rates between 1.3/1000 and 6/1000 have been reported in various studies so far (11). In addition to cardiac, hematologic, chromosomal, serological and metabolic studies, also imaging techniques are required to assess the structural abnormalities in these patients (2). Primary hepatic tumors are rarely seen in prenatal period as a cause of hydrops. Hepatic hamartomas, mesenchymal tumor of the liver, have been reported to cause hydrops in a few case report previously (3). Some other abnormalities such as liver hemangioma, hepatic fibrosis, cystic liver lesions and hepatic vasculary malformations have been showed to lead hydrops in fetal life (1, 8). Chromosomal disorders like Turner Syndrome and Down Syndrome have been reported as the probable causes of hydrops in the 32-78% of the cases with early fetal presentation (
Osteocraniosplenic syndrome-hypomineralized skull with gracile long bones and splenic hypoplasia: a case report and literature review: We report herein an intrauterine growth-restricted preterm nwonate with a lethal bone dysplasia characterized by severe hypomineralization of the skull, absent medullary lucency flared metaphyses fishbone-like diaphysis and overtubulated long vones. Dysmorphic features included flat facies, bulging forehead, vevus flammeus, depressed nasas bridge, short philtrum, inverted U-shape mouth, mild micrometic dwarfism, and brachydactyly. The infant's lungs and spleen were hypoplastic. The findings are compatible with the 19 previously reported cases that used different terminology: osteocraniostenosis, gracile bone disorders and osteocraniosplenic syndrome. We present the clinical, pathological and cytogenetic findings of this rare disorder.
The Joubert syndrome is characterized by hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern and cognitive impairment. The molar tooth sign is the pathognomonic midbrain-hindbrain malformation for Joubert syndrome. Joubert syndrome and related disorders (JSRD), are the clinically and genetically heterogen disorders in which the obligatory hallmark is the molar tooth sign (MTS). In this report, it was described the association of the molar tooth sign, absence of pituitary gland and corpus callosum agenesis on an infant with JSRD. To the best of our knowledge, this is the first case diagnosed as JSRD and panhypopituitarism without features of OFD VI.
