RESUMO
Acromesomelic dysplasia (AMD) is an umbrella term given to a heterogeneous group of progressive skeletal disorders characterized by short limbed dwarfism associated with disproportionate shortening of middle and distal segments of the upper as well as lower limbs. Although specific skeletal anomalies are difficult to diagnose antenatally, but because of their antenatal and postnatal implications and a possibility of reoccurrence in following pregnancies, such skeletal anomalies need to be actively addressed. A combination of radiologic, pathologic, genetic and molecular investigation prenatally as well as postnatally is required to classify a specific congenital skeletal dysplasia. Once the genetic make-up of fetal skeletal dysplasia is deciphered, a meaningful genetic counselling could be offered for future pregnancies of affected families. We describe a case of primigravida diagnosed with fetal unilateral upper limb AMD on antenatal ultrasound done at early second trimester. The radius and ulna of left upper limb were abnormally short (less than 5th centile of the mean for that gestational age). The left hand was also hypoplastic. Rest of the sonographic anomaly scan was normal. To the best of our knowledge, AMD limited to unilateral upper limb diagnosed antenatally as an isolated finding is not described in the medical literature so far.
RESUMO
Scrotal arteriovenous malformation (AVM) is an unusual entity with its own important clinical implications. Described only as a few case reports in medical literature, it not only can cause life-threatening haemorrhage because of its superficial location in the scrotum but also can result in infertility. We report the case of a 35-year-old man who had a progressively increasing scrotal swelling for almost 20 years and now presented for infertility workup. He had oligospermia on semen analysis with a normal testosterone level and no history of testicular infection or scrotal surgery. On scrotal sonography and computed tomography angiography, he was diagnosed to have bilateral scrotal AVMs which may have resulted in his oligospermia. Pre-operative embolisation and surgery was offered as a treatment option which the patient declined and was lost to follow-up. However, this case describes scrotal AVM as an important and possibly correctable cause of infertility. Usually diagnosed as scrotal lymphedema clinically, the case has been reported so that the clinician should be aware of this entity as a plausible cause of male infertility and the treatment could be refined and accelerated.
RESUMO
Craniosynostosis means premature closure of calvarial sutures. It may be primary or secondary. The patient presents with unexplained neuropsychological impairment and radiological imaging clinches the diagnosis. We present a case of 31-year-old female having primary isolated craniosynostosis who survived into adulthood without any surgical intervention. The imaging findings of such a case are rarely described in the literature.
RESUMO
Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome, is a rare syndrome with unknown etiology. The syndrome is characterized by a triad of unique cutaneous, ocular, and central nervous system (CNS) manifestations. The cutaneous hallmark, nevus psiloliparus (NP), along with overlying alopecia is a constant feature. Choristoma of the eyelid is the most common ocular manifestation, while intracranial lipoma is the predominant CNS finding. Genetic counseling is required to emphasize that the disorder, although congenital, is not inheritable. We present a 21-year-old female with cutaneous, ocular, and CNS features satisfying the diagnostic criteria for ECCL. To our knowledge, this is the first case of ECCL having a large temporal exostosis. The objective of this article is to better understand the phenotypic spectrum of this syndrome whose molecular basis is still unknown.