Congenital hypophosphatasia is a rare fatal skeletal dysplasia. Antenatal determinants of Epub ahead of print lethality include small thoracic circumference with pulmonary hypoplasia and severe micromelia. These features were present in the fetus of a 25-year-old female who came for an anomaly scan in her second trimester of pregnancy. Additional findings of generalized demineralization and osteochondral spurs led to the diagnosis of hypophosphatasia congenita. The pregnancy was terminated, and the findings were confirmed on autopsy. Common differential diagnoses with clues to diagnose the above mentioned condition have been discussed here. Early and accurate detection of this medical condition is important as no treatment has been established for this condition. Therefore, antenatal ultrasonography helps in diagnosing and decision making with respect to the current pregnancy and lays the foundation for the genetic counseling of the couple.
Adult ; Autopsy ; Decision Making ; Diagnosis ; Diagnosis, Differential ; Exostoses ; Female ; Fetus ; Genetic Counseling ; Humans ; Hypophosphatasia* ; Pregnancy ; Pregnancy Trimester, Second ; Prenatal Diagnosis* ; Ultrasonography* ; Ultrasonography, Prenatal

Cryptococcosis is a life-threatening mycosis typically seen in immunocompromised patients. Pulmonary cryptococcosis generally presents as multiple or solitary nodular opacities. Cryptococcal infection presenting as a destructing cavernoma (cryptococcoma) without diffuse infiltration of the lung is an extremely rare presentation, even in immunocompromised patients. This report presents a healthy, HIV negative, immunocompetent patient who presented with a large solitary lung mass provisionally diagnosed as a lung malignancy on radiological imaging that proved to be a large cryptococcoma after biopsy. The patient was treated with liposomal Amphotericin B and fluconazole, and the lesion showed regression on serial imaging. This case report thus highlights an unconventional presentation of pulmonary cryptococcosis in an immunocompetent individual.