ABSTRACT
This is a case of bilateral cavernous sinus thrombosis in a five-and-a-half-year-old boy who presented with bilateral proptosis with difficulty in swallowing and excessive salivation. Clinical features along with contrast-enhanced computed tomography and hemogram diagnosed the case as bilateral cavernous sinus thrombosis and retropharyngeal abscess with third cranial nerve palsy. The patient was treated with standard regimen successfully. Cavernous sinus thrombosis is a very rare complication of retropharyngeal abscess.
ABSTRACT
To determine the biochemical integrity of refrigerated breast milk for 96 hours at 4C, a longitudinal observational study done with fresh milk samples. It is found that there were significant changes in pH, serum albumin and lactose concentrations in breast milk though within normal range.
Subject(s)
Food Storage/methods , Milk, Human/chemistry , Refrigeration , Humans , Lactose/analysis , Lactose/chemistryABSTRACT
We present the case of a boy with a clinical diagnosis of Goltz syndrome (focal dermal hypoplasia), a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues. A 9-year-old male patient with Goltz syndrome presented with typical skin lesions along with progressive dimness of vision and mental retardation since birth. It is inherited in an X-linked dominant fashion and is normally lethal in male patients, and so very few male patients, like the index case, have been reported.
ABSTRACT
A 3 and half years old male child born by consanguineous marriage presented with white forelock and symmetric hypopigmented areas present since birth, similar to his mother and elder sister. Hepatomegaly was noticed at one year of age. Liver biopsy revealed enlarged pale hepatocytes distended with glycogen. Skin biopsy revealed absence of melanin pigment in white depigmented skin. G727T gene splice mutation was diagnosed in exon 5 of 17q21 chromosome.
Subject(s)
Glycogen Storage Disease Type I/pathology , Piebaldism/pathology , Child, Preschool , Humans , MaleABSTRACT
A bifid sternum is a rare congenital anomaly generally diagnosed as asymptomatic at birth. It is sometimes associated with other congenital anomalies. The sternal defects are best corrected surgically during the neonatal period within the first month of life. Sometimes the defect may be diagnosed only in adult life. We here report a case of bifid sternum which was diagnosed incidentally in a 23-year-old male.
ABSTRACT
Antley-Bixler syndrome (ABS) is rare form of craniosynostosis of both autosomal dominant and autosomal recessive inheritance. We are reporting a female term appropriate for gestational age newborn with clinical features of frontal bossing, brachycephaly, proptosis, synostosis of radioulnar joints, hemangioma over nose and philtrum, hydrocephalus suggestive of ABS.