ABSTRACT
AIM: To report a case of anomalous development of base of skull (platybasia, Basilar invagination and C1-C2 vertebral fusion); and emphasize nonsurgical management in inoperable cases that can improve quality of life of the patient. MATERIALS AND METHODS: The case is reported as a descriptive study of a 17-year-old female who presented to a rural teaching tertiary care hospital in Wardha, Maharashtra, India; with chief complaints of weakness in all four limbs since 10 years of age. RESULT AND CONCLUSION: Platybasia is a developmental defect of the occipital bone and upper cervical spine resulting from anomalous development. The mechanism of such anomalies is not known; however, the most accepted theory includes abnormal basi-occiput development. The pressure effects may present signs similar to progressive spastic paralysis, cerebellar symptoms, or cranial nerve palsy, in addition to musculoskeletal symptoms. It is, therefore, crucial for physicians and radiologists to be familiar with clinical manifestations and radiological findings. In the following case of a patient with base of skull anomalies, surgical intervention in view of progressive worsening of motor symptoms was advised, however, the guardians declined the same due to high risk involved. Due to financial constraints, genetic studies were unaffordable, and a lack of awareness regarding the disease hampered the guardians from making a decision on the definite management of the disease. Besides radical neurosurgery, intensive physiotherapy can prove vital in significantly improving the quality of life for the patient.
ABSTRACT
Sickle cell disease (SCD) is due to a gene mutation in the hemoglobin subunit beta gene, whose polymerization when deoxygenated disrupts the physicochemical properties of red blood cells, triggering pan-cellular activation and pathogenic processes such as hemolysis, vaso-occlusion, and ischemia-reperfusion, culminating in the disease's numerous and severe complication like hemorrhage. This case report highlights spontaneous extradural hematoma in a young adult with SCD as an acute neurological complication.
ABSTRACT
BACKGROUND: Variation in neonatal skin changes and clinical presentation is a frequent occurrence. We studied the pattern of cutaneous manifestations in new-borns <72 hours of birth. METHOD: We included all live babies delivered in our hospital; Babies were categorised according to age, birth weight and gestational age. Neonates were examined within 24 hours of birth and daily for skin lesions for 72 hours. Skin lesions were categorised into physiological, transient eruptions, due to infections, congenital anomalies and miscellaneous. RESULTS: Of 200 new-borns, 108 (54%) were females; 180 (90%) full term babies (37-41 weeks). Non-consanguinity was noted in parents of 175 (87.5%) babies. One hundred and thirty one (65%) babies were delivered normally by vaginal route, and 69 (34.5%) by Caesarean section. 176 (88.0%) were average birth weight babies. Mean±SD lesion burden/neonate was 3.925±1.2 (n=785 lesions, 1-8 lesions/neonate). Transient skin lesions were frequent (n=451 in 198 patients, Mean±SD 2.30±0.76) followed by physiological conditions (n=284, Mean±SD 1.44±0.82). Infectious, developmental, iatrogenic and miscellaneous lesions were less frequent (mean±SD lesions 0.015±0.12, 0.0115±0.32, 0.015±0.12, and 0.035±0.18, respectively). Statistically significant (p<0.001) relationship was noted between gestational age and number of lesions; more number of full term babies had lesions, while number of lesions (>6) were more in preterm babies. All lesions occurred within 24 hours of birth except erythema toxicum neonatorum (n=124) wherein 80 were seen on day 1, and 43 on day 2. CONCLUSION: We confirm the variation in cutaneous lesions and their time of onset in neonates. Transient and physiological changes are more frequent and disappeared spontaneously. Number of lesions/neonate was more in premature babies.
