DISEASE  CHARACTERISTICS   Spinal muscular atrophy Polio Destruction of anterior horn cells and flaccid paralysis   Neuromyelitis Optica Anti Aquaporin 4 antibody causing demyelination in white matter of spinal cord. Cervical spine involvement will cause quadriplegia   Brown-Séquard Hemi-section   Ipsilateral band of hyperesthesia at level of lesion Ipsilateral loss of proprioception below level of lesion Ipsilateral hemiparesis Contralateral loss of pain and temperature sensation one to two levels below lesion   Amyotrophic lateral sclerosis Asymmetric muscle weakness of legs and arms Combined UMN and LMN deficits Commonly presents as fasciculations with eventual atrophy and weakness of hands; Riluzole is used to improve survival   Complete occlusion of anterior spinal artery Spares dorsal columns. Sensory-motor dissociation Occurs after abdominal aorta surgery Central cord syndrome   Weakness more pronounced in upper extremities than lower extremities   Caused by hyperextension injuries of spine   Tabes dorsalis seen due to tertiary syphilis Lhermite sign Bladder incontinence Progressive sensory ataxia (inability to sense or feel the legs) poor coordination. Rhomberg sign due to impaired sensation and proprioception Associated with Charcot joints (repeated unknowing trauma to joint caused by lack of pain) Argyll Robertson pupils Syringomyelia   Caused due to Arnold chiari syndrome type 1 Syrinx (CSF-filled cavity within spinal cord) expands and damages anterior white commissure of spinothalamic tract. Results in a cape-like, bilateral loss of pain and temperature in upper extremities Vitamin B12 deficiency  Subacute combined degeneration-demyelination of dorsal columns, lateral corticospinal tracts, and spinocerebellar tracts; ataxic gait, paresthesia, impaired position and vibration sense Cauda equina syndrome Compression of spinal roots L2 and below, most likely caused by disc herniation; saddle anesthesia, loss of bladder and anal sphincter control, and absent knee and ankle jerk reflexes

Understanding this distinction is important for proper diagnosis, as it helps differentiate between these two genetically related conditions with similar physical manifestations but differing biochemical profiles. Pseudopseudohypoparathyroidism PPHP is caused by heterozygous mutations in the GNAS gene, the same gene responsible for PHP, but only in the paternal allele. Maternal allele of the GNAS gene is normal, so the gene function is not impaired in the tissues where the mutation is expressed (such as kidneys, bones, and adipose tissue). This results in the physical features of PHP (e.g., short stature, round face, and obesity) but without the biochemical abnormalities associated with PHP).   Key Features of PPHP: Physical Features: Individuals with PPHP often have the same physical features as those with PHP (e.g., short stature, obesity, round face, and sometimes subcutaneous calcifications). These features are due to the imprinting of the GNAS gene, which results in Albright’s hereditary osteodystrophy. Biochemical Features: In contrast to PHP, individuals with PPHP do not have PTH resistance. They do not experience the same hypocalcemia or elevated PTH associated with PHP. Urinary cAMP levels in response to PTH are normal in PPHP, because there is no resistance to the effects of PTH. This is one of the major distinguishing features between PHP and PPHP. Pseudohypoparathyroidism (PHP) vs Pseudopseudohypoparathyroidism (PPHP): Feature Pseudohypoparathyroidism (PHP) Pseudopseudohypoparathyroidism (PPHP) Cause Maternal inheritance of a mutation in the GNAS gene. Paternal inheritance of a mutation in the GNAS gene. Physical features Albright’s hereditary osteodystrophy (short stature, obesity, round face, subcutaneous calcifications). Same physical features (short stature, obesity, round face) as PHP. PTH levels Elevated PTH (due to PTH resistance in the kidneys and other tissues). Normal PTH levels because tissues respond normally to PTH. Urinary cAMP response to PTH Low or absent urinary cAMP despite elevated PTH levels (due to PTH resistance). Normal urinary cAMP response to PTH (because there is no PTH resistance). Calcium levels Hypocalcemia (low calcium) due to PTH resistance. Normal calcium levels (since there is no PTH resistance).   Key Diagnostic Difference: PPHP presents with the physical features of pseudohypoparathyroidism, but urinary cAMP levels will be normal in response to PTH, differentiating it from pseudohypoparathyroidism where urinary cAMP is low despite high PTH.   Take home points Pseudohypoparathyroidism (PHP) is characterized by PTH resistance and low urinary cAMP despite high PTH levels. Pseudopseudohypoparathyroidism (PPHP) shares the physical features of PHP (due to imprinting of the GNAS gene) but does not have PTH resistance, and urinary cAMP levels remain normal in response to PTH.

DIAGNOSIS For any neurological emergency first secure airway, check BP and calculate NIHSS. National institute of health stroke scale value > 5 confirms stroke Best initial step: Head CT without contrast to differentiate ischemic from hemorrhagic stroke and identify potential candidates for thrombolytic therapy. If CT head is normal and no evidence of CNS bleed in present in symptomatic patient it implies Acute ischemia stroke Labs to draw immediately, in case thrombolytic therapy or intervention may be required, include CBC, Random blood sugar, coagulogram, cardiac biomarkers and KFT CTA is done after fibrinolysis to determine opening of large vessel occlusion Investigations NCCT head ECG Echo Holter Carotid doppler Transcranial doppler Conventional Angiography Common Stroke Symptoms by Vessel Territory  VESSEL TERRITORY  Characteristic features   Middle cerebral artery Patient looks towards the side of lesion Contralateral paresis and sensory loss in the face and arm Homonymous hemianopsia Global Aphasia for dominant lobe lesion Neglect and constructional apraxia for non-dominant lobe lesion   Anterior cerebral artery Contralateral paresis and sensory loss in the leg Aggressive behavior with personality changes Abulia Urinary incontinence Posterior cerebral artery P1 PCA: Weber syndrome I/L 3rd nerve palsy with contralateral hemiparesis   P1 PCA: Nothnagel syndrome I/L 3rd nerve palsy with contralateral limb ataxia Lacunar Pure motor paralysis due to damage to posterior limb of internal capsule Pure sensory stroke Ataxic hemiparesis, dysarthria, or clumsy hand Strokes affecting the thalamus may cause thalamic pain syndrome several weeks after the event, patient complaints of burning pain over hand, arm, leg on even touch   Transient ischemic attack Any 1 of the symptoms above depending on location of vascular lesion and 1.       Neurologic deficit lasts < 24 hours (most last < 1 hour) 2.       DW MRI will be normal   Wallenberg syndrome due to vertebral artery involvement Loss of pain and temperature sensation on ipsilateral face and contralateral body Ipsilateral bulbar weakness Ipsilateral Horner syndrome Vertigo Nystagmus Carotid artery dissection Sudden headache, neck pain, Horner syndrome Treatment of acute ischemic stroke < 6 hours 6 -24 hours Fibrinolysis but BP should be less than < 185/110 mm Hg If BP remains more than the cut off mentioned then Schedule thrombectomy Thrombectomy after conventional cerebral angiography Ideal window period for acute ischemic stroke is 4.5 hours but can be done up to 6 hours Treat fever and hyperglycemia as both are associated with poorer prog- noses in the setting of acute stroke. Monitor for signs and symptoms of brain swelling, raised intracranial pressure and herniation. Treat acutely with mannitol and Prevent and treat poststroke complications, such as aspiration pneumonia, urinary tract infection (UTI), and deep vein thrombosis (DVT). Contraindications to fibrinolysis Stroke or head trauma within the last 3 months Anticoagulation with INR > 1.7 MI in past 3 months Prior intracranial hemorrhage Elevated BP: Systolic > 185 mm Hg or diastolic 110 mm Hg Major Surgery in the past 14 days On discharge the following measures are to be introduced – Hypertension treatment with target BP of < 130/80 mm Hg Keep HbA1c < 7% Statins Acetylsalicylic acid and ticagrelor (dual antiplatelet therapy) For cardioembolic strokes due to atrial fibrillation, target INR is 2-3. In Cases in India involving a prosthetic valve deployed for calcified mitral valve, the target INR is 2.5-3.5. Carotid endarterectomy: If stenosis is > 60% in symptomatic patients or >70% in asymptomatic patients (contraindicated in complete occlusion)