7 Case presentation demonstrating clinical complexity in neurodegenerative disorders

7 Case presentation demonstrating clinical complexity in neurodegenerative disorders

Case 1

51 year old male farmer presented with swelling of left foot and loss of sensations over left foot for 3years,ulceration over sole for 11 months.On furthur probing patient reported having sustained injury over left foot 25years back another episode 3years back and had fracture of base of 5th metatarsal and was managed conservatively patient continued to limp post trauma and developed tingling and numbness over his leftfoot with progressive loss of sensations associated with slippage of footwear affecting his daily routine Examination revealed 51M with intact higher mental functions ,normal cranial nerve examination motor examination of left lower limb revealed absence of dorsiflexion and eversion of foot and great toe extension with all deep tendon reflexes present ,sensory showed absence of all sensory modalities below ankle ,palpable common peroneal nerve with highsteppage gait and provisionally diagnosed as Diffuse sensory motor axonal mononeuropathy of the Sciatic nerve with our differentials as ? hansens ?nerve sheeth tumour.

HRUS-long segemental focal fusiform enlargement of sciatic nerve extending to common peroneal and tibial nerve 

MRI-similar cystic lesions in tibial and common peroneal nerves ? intraneural ganglion of tibial nerve?hamartoma?nervesheet tumour 

NCV studies showed no response left tibial and common peroneal nerve and superficial peroneal nerve and sural nerve

SSS showed no AFB 

Treatment - was given symptomatic treatment of tab gabapentin 100mg , tab amityptiline 25 mg,

Patient is being followed up in the pajr group for furthur progression or relief of symptoms

Case 2

A 47 year school teacher came to the opd with complaints of involuntary movements of upper and lower limbs for 4 years

followed by slurring of speech for 3 years ,difficulty in swallowing and urinary incontinence for 2 years

Involuntary movements high amplitude , purposeless movements, progressive affecting his quality of sleep

with no associated triggers and releiving factors seen.Patient on furthur questioning gave the history of similar complaints in 

the family -mother,sister,aunt .

On examination-patient conscious ,coherent ,cooperative with MMSE 26/30.Detailed examination of CNS revealed cranial nerves

intact, motor -normal bulk , power and reflexes ++,no sensory involvement, Cerebellum -no nystagmus , rhombergs slight swaying

 present.and initial differentials were Spinocerebellar ataxia and Huntingtons disease

GENETIC ANALYSIS for SCA and Huntingtons revealed increased CAG repeats and negative for SCA 

and diagnosis of HUNTINGTONS CHOREA is made.

Case 3

A 59-year-old female , company employee, presented with bilateral upper and lower limb weakness for 6 months. The weakness initially began in her left lower limb, it was insidious in onset and progressive in nature. She experienced frequent falls while carrying out her daily activities and experienced multiple injuries on her lower limbs. Gradually, she developed weakness in the left upper limb. She was able to carry out her daily activities with discomfort for 4 to 5 months, after which the weakness spread bilaterally to her right upper and lower limb. She was unable to maintain her balance or walk without support and required assistance to bathe or use the washroom. The patient was unable to raise her lower limbs from the bed in supine position and complained of neck pain radiating bilaterally to her upper limbs. On examination, the bulk and power of the muscles were reduced and deep tendon reflexes were exaggerated bilaterally in both upper and lower limbs.

There were no deficits in her cognition or memory, no dysarthria or loss of sensations, and her bowel and bladder movements were normal. Her Laboratory investigations revealed raised ESR (25mm/hr) and mild normocytic, normochromic anaemia. Liver function tests, Renal function tests, Thyroid profile and Vitamin D estimations were within normal ranges. MRI of the cervical spine revealed mild subarticular disc protrusions at C5-C6 levels, mild posterior central disc bulge at C3, C4, and spinal canal narrowing at C5-C6 and C6 -C7 levels. EMG study revealed decreased motor unit recruitment with low amplitude polyphasic MUAP and abnormal spontaneous activity–fasciculation potentials. Nerve conduction velocity study suggested axonopathy and demyelinating early polyneuropathy. In the Motor Conduction Study there was wide and low amplitude CMAP present in bilateral Median, Ulnar, Common Peroneal and Tibial nerves with normal conduction velocities and normal F wave latency. The Sensory conduction study done on the bilateral median, ulnar and sural nerves revealed normal conduction velocity and normal amplitude SNAP. Thus, the patient was diagnosed with Amyotrophic Lateral Sclerosis and was started on the tablet riluzole 50 mg twice a day and vitamin E supplementation.

Case 4

A 37 year old ragpicker by occupation come to the OPD with cheif complaints of bowel and bladder incontinence ,erectile dysfunction and weakness and numbness of lower limbs for past 6 years ,gradually progressive and increased in intensity during the past 6months affecting his routine activities .History of snake bite 10 years back patient developed swelling of thigh and difficulty in walking and was asymptomatic for past 5 years  from then and his visit to the local clinics were in vain examination revealed-higher mental functions intact with MMSE 27/30 with intact higher mental functions ,motor examination showed hypertonia of lower limbs with exaggereated reflexes of biceps,triceps ,knee ,ankle with plantar extensors bilaterally sensory intact in the upperlimb decreased in lower limb history of dysarthria in family gave us differentials of any autosomal dominant neurogenerative disorders or central lesion above pons. MRI spine showed Expansion of dorsal spinal cord with long segment intramedullary lesion with surrounding edema and syrinx 

?EPENDYMOMA ?ASTROCYTOMA

follow up was done through PaJR group and neurosurgeon opinion was taken and surgicl management was suggested.

Case 5

A 20-year-old farmer came to our hospital with painful swelling in right ankle,pain is insidious  onset ,dull boring type ,continuous ,aggravating on both active and passive movement impairing his gait and partially relieved by medication. On local examination ,no warmth,no redness , tenderness present,decreased mobility of ankle joint .on further investigations,MRI revealed marrow oedema, cortical irregularity ,infective changes  in talus, calcaneum and navicular bones and tenosynovitis .Post-MRI patient had exploratory ankle arthrotomy . Histopathology showed a 2 x 1 cm tubercular lesion. Follow up MRI showed talonavicular joint destruction with patchy confluent marrow density  and he provisionally diagnosed as tubercular arthritis. Full course ATT given but the pain persisted.xray showed hyperdense lesion.symptomatic treatment given and its subsided. Repeat xray findings normal, followed him on a PaJr. After 1 month, he complains numbness on right and ankle joint .on further questioning only sensory loss, no motor loss is observed and suspected incisional injury to the sural nerve, tubercular osteomyelitis-related sural neuralgia, or a mix of both. The patient was counselled and informed of possible nerve damage and offered sural nerve testing, after which steroidal injections and physiotherapy would be the mainstay of treatment, but due to the patient's limited understanding and poor socioeconomic status, no further testing was done. He is under monitoring for nerve function decline. 

Case 6

A 28 year old female, farmer by occupation, presented with chief complaints of 

pain and weakness in the lower back region, right upper limb and right lower limb for 8 years. Pain is insidious onset, gradually progressive, dragging type aggravates on movements[involving sitting and getting up] and relieved on medication.patient also reports joint pains which are migratory in nature with morning stiffness. There was no history of swelling, skin changes ,rash, difficulty in breathing, fasciculations of the muscles, involuntary movements, changing of speech, spilling of food from the mouth, sweating disturbances or palpitations, fever or vomiting. CNS examination revealed normal cranial nerve function, sensory examination is normal motor examination revealed hypotonia and mild atrophy of the biceps brachii and brachialis internal rotation and adduction affected .The reflex on the right biceps and right supinator were absent. Right knee jerk was graded 1+. right plantar mute. Proximal weakness was also observed. On joint examination, the squeeze test was positive on the 2nd, 3rd and 4th proximal interphalangeal joints on the right hand as well as on the 3rd and 4th proximal interphalangeal joints, 2nd and 3rd distal interphalangeal joints. On Investigations the MRI scan of the brain revealed a few T2 / FLAIR hyperintense lesions on the right side which are oriented perpendicular to the ventricles. The laboratory investigations revealed that the ESR was elevated (25mm/hr), CRP was negative and CK was within normal ranges (147 IU/L). The NCS investigation was done with the exception of the musculocutaneous nerve and sciatic nerve. The report for both the motor as well as the sensory nerve conduction was normal. Needle EMG, Serum protein electrophoresis and re-investigation of the NCS couldn’t be performed due to technical limitations of the PaJR group as well as financial limitations of the patient. Thus the patient was given a provisional diagnosis of Multifocal Motor Neuropathy and treatment regimen was started with tablet Prednisolone 10mg and Naproxene 250mg.

 

Case 7

 

A 49-year-old male, businessman by occupation, with history of hypertension, presented with involuntary movements of the head. The patient was apparently asymptomatic till the year 2000. While watching television, he felt the back of the neck and head become stiff, soon after, he experienced involuntary movements of his head, moving from side to side. They were insidious in onset and progressive in nature. It lasted for 5 to 10 seconds and happened 1-2 times a day, few times a week. The involuntary movements of the head were associated with a pin pricking sensation along his spine. By the year 2005, the involuntary movements of the head increased in frequency, duration and severity. At this point, the patient visited a local physician but the medications did not provide relief. In 2006, the patient visited a higher centre, where the doctor prescribed Amitriptyline 0.25 mg and Clonazepam 0.5 mg once daily. These medications provided some relief for 3 months. After which the involuntary movements continued even after increasing the doses of medicines. The patient also tried homeopathic medication, but it did not provide any relief. In 2008, the patient started experiencing reduced sleep, whenever he tried to rest, in supine position, the involuntary movements of the head reappeared, thus he had to lie down on his sides. The patient also started experienced slurring of speech. By the year 2012, the patient developed ataxia which was insidious in onset and progressive in nature. In a year, the patient was unable to walk without support. Past pointing test was positive. He visited a doctor where an MRI was done and the patient was diagnosed with Autosomal Dominant Spinocerebellar degeneration. The patient was treated with Baclofen 5mg and clonazepam 0.5 mg. The patient experienced some relief of symptoms for a few months.He also started ayurvedic treatment, that was found beneficial, for slurred speech -which included chewing the roots of the plant piper longum. The patient stopped taking medication as it was not providing any relief. In 2018 the patient was diagnosed with hypertension and was started on telmisartan 40 mg Once Daily. The patient also complained of constipation and consumes laxatives occasionally. The patient was started on Amitriptyline Hydrochloride 25 mg OD for symptomatic management. There is no history of muscle weakness, abnormal eye movements, dysarthria, loss of sensations, visual or hearing impairment. There are no features of parkinsonism, epileptic seizures, myoclonus. His mother and elder brother was diagnosed and died by autosomal dominant Spinocerebellar degeneration and elder sister and younger sisterwas diagnosed and died by autosomal dominant spinocerebellar ataxia current treatment includes: Amitriptyline Hydrochloride 25 mg OD, telmisartan 40 mg OD and physiotherapy.